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LOVD - Variant listings for RB1

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?/+ g.56857del c.612del deletion 07_ex - - - frameshift RB1_00429 - E3163 - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.56857del c.612del deletion 07_ex - - - frameshift RB1_00429 - Fam715 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.56858del c.613del deletion 07_ex - p.Val205Tyrfs*9 - frameshift RB1_00753 unknown 3b bilateral rb germline blood DNA - familial - 1 published -
?/+ g.56858del c.613del deletion 07_ex - p.Val205Tyrfs*9 - frameshift RB1_00753 unknown 3b bilateral rb germline blood DNA - familial Brichard et al. (2006), Eur J Cancer.Jan;42(1):65-72. 1 published -
?/+ g.56864C>T c.619C>T substitution 07_ex - p.Gln207X - nonsense RB1_01190 - 17 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.56867A>G c.622A>G Substitution 07_ex - p.Met208Val [Met208Val] missense RB1_01399 - Case No. 12 other cancer somatic tumor RNA unknown unknown Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/+ g.56869insT c.624_625insT insertion 07_ex - p.(Glu209*) - frameshift RB1_00722 unknown not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.56869insT c.624_625insT insertion 07_ex - p.(Glu209*) - frameshift RB1_00722 unknown not provided bilateral rb germline blood DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.56869insT c.624_625insT insertion 07_ex - p.(Glu209*) - frameshift RB1_00722 unknown T19 unilateral rb - retinoblastoma DNA - familial Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.56869insT c.624_625insT insertion 07_ex - p.(Glu209*) - frameshift RB1_00722 unknown T22 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.56870G>T c.625G>T Substitution 07_ex - p.Glu209X - unknown RB1_01607 germline bilateral_80 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? g.56880delT c.635del Deletion 7 premature stop codon p.Leu212Argfs*2 - frameshift RB1_01464 unknown 1970 bilateral rb unknown Blood DNA heterozygous isolated Saudi Arabia:Al-Ahsa 1 unpublished -
+/? g.56880 c.635delT Deletion 7 - p.L212fsX214 - frameshift RB1_02112 germline 666 bilateral rb germline blood DNA unknown isolated Argentina:Buenos Aires 1 unpublished -
?/? g.56885del c.640del Deletion 07_ex - p.Ile214Phefs*5 - frameshift RB1_01507 germline RB16 bilateral rb germline blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.56886dup c.641dup insertion 07_ex - - - - RB1_00904 - Fam760 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.56886_56887ins8;56887T>A c.641_642ins8;642T>A Other/Complex 07_ex - - - unknown RB1_01703 somatic ng_un_is_tu_175 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? g.56889 c.644-660del Deletion 7 - p.S215fsX223 - frameshift RB1_02114 somatic 668 unilateral rb somatic Retinoblastoma DNA heterozygous isolated Argentina:Buenos Aires 1 unpublished -
?/+ g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 - E671T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 - Fam25 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 - T30 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.56889C>A c.644C>A substitution 07_ex - p.Ser215X - nonsense RB1_00058 somatic NCI-H1284 other cancer somatic tumor DNA - - COSMIC - COSM13412 1 published -
?/? g.56889C>G c.644C>G Substitution 07_ex - p.Ser215X - unknown RB1_01602 germline bilateral_67 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.56891_56895del c.646_650del deletion 07_ex - - - frameshift RB1_00873 - Fam435 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.56893delT c.648del Deletion 07_ex - p.Gln217Serfs*2 - frameshift RB1_01531 somatic S83861 no cancer somatic nd DNA - - COSMIC - COSM931, Chibon et al., 2000 1 - -
+/+ g.56894C>T c.649C>T Substitution 07_ex - p.Gln217X - nonsense RB1_01457 - E5520 unilateral rb somatic retinoblastoma DNA hemi/homozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.56894C>T c.649C>T Substitution 07_ex - p.Gln217X - nonsense RB1_01457 somatic 16648 other cancer somatic tumor (lung) DNA - - COSMIC - COSM13405 1 published -
?/? g.56897T>G c.652T>G substitution 07_ex - p.Leu218Val Leu218Val unknown RB1_01368 - RB-51 bilateral rb germline blood DNA - isolated Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
?/? g.56897T>G c.652T>G substitution 07_ex - p.Leu218Val Leu218Val unknown RB1_01368 - 1022 unilateral rb - tumor DNA - - - 1 - Homozygous c.652T>G in tumor. New splice donor site created with splice score of 82 (normal donor site 79), blood normal
?/? g.56901T>C c.656T>C substitution 07_ex - p.Met219Thr Met219Thr unknown RB1_01376 - not provided unilateral rb germline retinoblastoma DNA homozygous isolated - 1 unpublished Tumor w/homozygous (presumably deleterious) c.1463C>A (p.Ala488Glu) + homozygous p.Met219Thr. Blood only hetero Met219Thr. Father n/a
?/? g.56903C>G c.658C>G substitution 07_ex splice p.Leu220Val/splice - missense-splice RB1_00251 - not provided - - nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.56903C>G c.658C>G substitution 07_ex splice p.Leu220Val/splice - missense-splice RB1_00251 - not provided unilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.56903C>G c.658C>G substitution 07_ex splice p.Leu220Val/splice - missense-splice RB1_00251 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.56903C>G c.658C>G substitution 07_ex splice p.Leu220Val/splice - missense-splice RB1_00251 - E2 unilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.56903C>G c.658C>G substitution 07_ex splice p.Leu220Val/splice - missense-splice RB1_00251 - E3 unilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.56903_56909del7 c.658_664del7 Deletion 07_ex - p.(Leu220Serfs*42) - frameshift RB1_01890 unknown Supp_Tab_Mt-27 - - nd DNA - - Price et al., 2013 1 published -
?/? g.56904_56905delTA c.659_660delTA Deletion 07_ex - - - frameshift RB1_01704 somatic ng_un_is_tu_177 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? g.56905 c.660-661delAT Deletion 7 - p.L220Lfs*3 - frameshift RB1_02118 somatic 673 unilateral rb somatic Tumor DNA heterozygous isolated Irene Szijan Buenos Aires Argentina, Argentina:Buenos Aires 1 published -
?/? g.56905_56906delAT c.660_661delAT Deletion 07_ex - p.(Val222Profs*2) - frameshift RB1_01891 unknown Supp_Tab_Mt-28 - - nd DNA - - Price et al., 2013 1 published -
?/? g.56907_56925del19 c.662_680del19 Deletion 07_ex - - - frameshift RB1_01606 germline bilateral_79 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 published -
?/+ g.56909_56910del c.664_665del deletion 07_ex - - - frameshift RB1_00443 germline E2019 unilateral rb germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
+?/? g.56913 c.668T>C Substitution 7 - p.223L>P - unknown RB1_02111 germline 661 unilateral rb germline Retinoblastoma DNA heterozygous familial low penetrance Argentina:Buenos Aires 1 unpublished -
?/? g.56920T>G c.675T>G Substitution 07_ex - p.(Tyr225*) - nonsense RB1_01934 unknown Supp_Tab_Mt-29 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.56923del c.678del deletion 07_ex - p.Phe226Leufs*38 - frameshift RB1_00059 unknown ANA (RB9) unilateral rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/+ g.56927A>T c.682A>T substitution 07_ex - p.Lys228X - nonsense RB1_00655 - Fam465 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.56928_56929dup c.683_674dup insertion 07_ex - p.Asn229fsX35 - frameshift RB1_00526 - SNU-RB11 bilateral rb germline blood DNA - isolated Yu et al. (2001) Hum Mutat 18(3): 252. 1 published -
?/+ g.56930_56931del c.685_686del deletion 07_ex - - - frameshift RB1_00874 - Fam39 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
+/? - c.687del Deletion 07_ex - p.Ser230Hisfs*34 - frameshift RB1_01966 germline fam-no_20074452 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published Previously reported in Mol et al. 2014
?/? g.56933T>C c.688T>C substitution 07_ex - p.Ser230Pro Ser230Pro unknown RB1_01333 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/+ g.56935C>A c.689C>A substitution 07_ex - p.Ser230X - nonsense RB1_01191 - CO408 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.56934C>G c.689C>G Substitution 07_ex - p.(Ser230*) - nonsense RB1_01935 unknown Supp_Tab_Mt-30 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.56935dup c.690dup insertion 07_ex - - - frameshift RB1_00729 germline E3913 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.56939C>T c.694C>T substitution 07_ex - p.Pro232Ser - missense RB1_00978 - Fam856 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished No tumor available. Proband is unilateral but spot on other eye. Mother carries the change and has retinal lesion.
?/? g.56939delC c.694delC Deletion 07_ex - - - unknown RB1_01576 germline RB29tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/+ g.56944_56947dup c.699_702dup insertion 07_ex - p.Leu235Valfs*7 - frameshift RB1_00060 unknown Rb3 bilateral rb germline blood DNA not reported isolated Szijan et al., 1994 1 published -
+/? g.56946T>A c.702T>A Substitution 7 - - - nonsense RB1_01538 germline 527 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+/? - c.709del Deletion 07_ex - p.Glu237Asnfs*27 - frameshift RB1_01967 germline fam-no_19982711 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.56954G>T c.709G>T Substitution 07_ex - p.Glu237X - unknown RB1_01604 unknown bilateral_77 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.56954G>T c.709G>T Substitution 07_ex - p.Glu237X - nonsense RB1_01604 unknown Supp_Tab_Mt-31 - - nd DNA - - Price et al., 2013 1 published -
?/? g.56958del c.713del Deletion 07_ex - p.(Pro238Hisfs*26) - frameshift RB1_02048 germline P_20140723_107 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.56962T>G c.717T>G substitution 07_ex - p.Tyr239X - nonsense RB1_00383 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.56962T>G c.717T>G substitution 07_ex - p.Tyr239X - nonsense RB1_00383 - E1467 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.56962_56964delinsA c.717_718+1delinsA complex 07_ex altered splicing - - splice RB1_00420 - E2245 unilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.56962_56964delinsA c.717_718+1delinsA
    + c.746C>T		 complex 07_ex altered splicing - - splice RB1_00420 germline E2245 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/+ g.56963A>T c.718A>T substitution 07_ex - p.Lys240X/splice - nonsense RB1_00491 - not provided bilateral rb germline retinoblastoma DNA - - Matsumoto et al. (2003) Pediatr Int 45(6): 728-30. 1 published -
?/? g.56963_56964insA c.718_719insA Substitution 07_ex - - - frameshift RB1_01605 germline bilateral_78 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.56963_56964insAT c.718_719insAT Insertion 07_ex - - - frameshift RB1_01915 unknown Supp_Tab_Mt-32 - - nd DNA - - Price et al., 2013 1 published -
?/? g.56968G>A c.718+5G>A substitution 07_in altered splicing - - splice RB1_00524 - 1 bilateral rb germline blood DNA - isolated Jakubowska,et al. (2001) Hum Mutat 18(5): 459. 1 published -
?/? g.56968G>A c.718+5G>A substitution 07_in altered splicing - - splice RB1_00524 - Fam919 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.56989T>C c.718+26T>C substitution 07_in - variant - variant RB1_01022 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.56998A>T c.718+35A>T substitution 07_in - variant - variant RB1_01023 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.57101G>A c.718+138G>A substitution 07_in - variant - variant RB1_01024 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.59473T>C c.719-178T>C substitution 07_in - variant - variant RB1_01025 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.59639_59834del c.719-12_861+41del deletion 07_in - - - - RB1_00909 - Fam752 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.59642C>G c.719-9C>G substitution 07_in - intron inclusion 8bp - splice RB1_00539 - JA233 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.59642C>G c.719-9C>G substitution 07_in - intron inclusion 8bp - splice RB1_00539 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.59646_59649delins18 c.719-5_719-2delins18 Other/Complex 07_in Splice - - splice RB1_01882 unknown Supp_Tab_Mt-33 - - nd DNA - - Price et al., 2013 1 published -
+/? - c.719-3C>G Substitution 07_in - - - splice RB1_01968 germline fam-no_19971119 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published No RNA available Predicted: new splice acceptor site in intron 7 leading to a frameshift
?/? g.59649A>G c.719–2A>G Substitution 07_in Altered splicing - - unknown RB1_01509 germline RB20 unilateral rb germline blood DNA - familial low penetrance Abidi et al. (2011) Mol Vis.;17:3541-7 1 - RB20 and RB21 (same family) have same causative splice site mutation. Fathers and other family members were healthy carriers of this mutation
?/+ g.56963insAA c.720_721dup insertion 07_ex - p.(Thr241Lysfs*24) - frameshift RB1_00061 unknown TS11 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/? g.59651_59656del c.719_724del Deletion 08_ex - p.Lys240_Ala242delinsThr - unknown RB1_01807 somatic S82104 other cancer somatic tumor DNA - unknown COSMIC - COSM875 1 published -
?/? g.59653_59657dup c.721_725dup Insertion 08_ex - p.(Val243Glnfs*23) - frameshift RB1_02049 germline P_20140723_137 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+/+ g.59655_59662dup c.723_730dup Duplication 08_ex - p.(Ile244Lysfs*23) - frameshift RB1_01467 somatic E5615T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.59659_59663delins18 c.727_731delins18 complex 08_ex - p.Val243X - frameshift RB1_00533 - JA53 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.59662dup c.730dup Insertion 08_ex - p.(Ile244Asnfs*4) - frameshift RB1_02050 germline P_20140723_138 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 published -
?/? g.59663_59666delinsGG c.731_734delinsGG Other/Complex 08_ex - p.(Ile244Argfs*3) - frameshift RB1_01916 unknown Supp_Tab_Mt-34 - - nd DNA - - Price et al., 2013 1 published -
+/+ g.59664_59665del c.732_733del Deletion 08_ex - p.(Pro245Hisfs*2) - frameshift RB1_01866 germline E6108 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
+/? - c.735_744delinsTGTCGACCC Insertion/Deletion 08_ex - p.Ile246Valfs*18 - frameshift RB1_01969 germline fam-no_20100833 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published -
?/+ g.59670dup c.738dup insertion 08_ex - p.(Asn247*) - frameshift RB1_00361 germline E2695 bilateral rb germline nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/+ g.59677ins8 c.745_746ins8 insertion 08_ex - - - frameshift RB1_00453 germline E3312 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.59678C>A c.746C>A Substitution 08_ex - p.Ser249X - nonsense RB1_01610 germline bilateral_112 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.59678C>T c.746C>T substitution 08_ex - p.Ser249X - nonsense RB1_00419 - E2245T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.59678C>T c.746C>T
    + c.717_718+1delinsA		 substitution 08_ex - p.Ser249X - nonsense RB1_00419 somatic E2245 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Family H rb germline blood DNA not reported familial Cowell et al., 1994 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Family G rb germline blood DNA not reported familial Cowell et al., 1994 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Nidp bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Nidp bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
601 - 700
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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