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LOVD - Variant listings for RB1

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?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline #745 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455* - nonsense RB1_00096 germline #777 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 unknown Tab_1_9 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/+ g.76461_76474dup c.1364_1377dup insertion 14_ex - - - frameshift RB1_00727 germline E3898 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.76464_76477del c.1367_1380del deletion 14_ex - - - frameshift RB1_01361 - RB-66 bilateral rb germline blood DNA - - - 1 published -
?/? g.76467T>G c.1370T>G substitution 14_ex - p.Met457Arg - missense RB1_00097 - GOS109 bilateral rb - retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/? g.76468G>A c.1371G>A substitution 14_ex - p.Met457Ile - missense RB1_00952 - Fam943 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76469G>T c.1372G>T substitution 14_ex - p.Glu458X - nonsense RB1_00973 - Fam99 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76470del c.1373del deletion 14_ex - - - frameshift RB1_00815 - Fam250 bilateral rb germline nd DNA - possibly familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76479del c.1382del deletion 14_ex - - - frameshift RB1_00816 - Fam689 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
+/+ g.76579T>C c.1382T>C Substitution 14_ex - p.Leu461Pro - missense RB1_01851 somatic E5991 unilateral rb somatic retinoblastoma DNA LOH isolated Lohmann, Germany:Essen 1 unpublished -
+/? g.76478 c.1384insT Insertion 14 - p.K462Xfs*1 - frameshift RB1_02116 germline 686 unilateral rb germline blood DNA heterozygous isolated Argentina:Buenos Aires 1 published -
?/+ g.76485C>G c.1388C>G substitution 14_ex - p.Ser463X - nonsense RB1_00098 - E531 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.76485C>G c.1388C>G substitution 14_ex - p.Ser463X - nonsense RB1_00098 - Fam789 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76485C>G c.1388C>G substitution 14_ex - p.Ser463X - nonsense RB1_00098 - F5000 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.76487G>A c.1389+1G>A substitution 14_in altered splicing - - splice RB1_00504 - not provided unilateral rb germline blood DNA - isolated Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.76487G>A c.1389+1G>A substitution 14_in altered splicing - - splice RB1_00504 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.76487G>C c.1389+1G>C substitution 14_in altered splicing - - splice RB1_00593 - Fam360 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.76487G>C c.1389+1G>C substitution 14_in altered splicing - - splice RB1_00593 - Rb13 bilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.76487G>C c.1389+1G>C substitution 14_in altered splicing - - splice RB1_00593 - Rb219 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.76487G>T c.1389+1G>T Substitution 14_in splice_donor - - splice RB1_01892 unknown Supp_Tab_Mt-60 - - nd DNA - - Price et al., 2013 1 published -
?/? g.76488T>C c.1389+2T>C substitution 14_in altered splicing - - splice RB1_00486 - RB62 bilateral rb germline retinoblastoma DNA homozygous familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.76488T>C c.1389+2T>C substitution 14_in altered splicing - - splice RB1_00486 germline Rb14 bilateral rb germline blood DNA - isolated Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8. 1 published -
?/? g.76490A>G c.1389+4A>G substitution 14_in altered splicing - - splice RB1_01259 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - G1505 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - JA223 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - JA243 bilateral rb germline blood DNA - familial lp Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - Fam784 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
+/? - c.1389+5G>T Substitution 14_in - - - splice RB1_01977 germline fam-no_19951229 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published G>A reported in LOVD No RNA available Predicted: close to acceptor splice site of exon 14, consequence not predictable
?/? g.76492T>A c.1389+6T>A substitution 14_in altered splicing - - splice RB1_00427 somatic E3036 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76678del c.1389+192del deletion 14_in - variant - variant RB1_01042 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.76721C>G c.1389+235C>G substitution 14_in - variant - variant RB1_01044 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.76772G>A c.1389+286G>A substitution 14_in - variant - variant RB1_01045 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.76717A>T c.1390-172A>T substitution 14_in - variant - variant RB1_01043 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.76721G>C c.1390-168G>C substitution 14_in - variant - variant RB1_01109 - not provided no cancer - nd DNA - - dbSNP 1 published snp_id 2854358 was merged into rs2070752 (01.10.10)
?/? g.76792C>T c.1390-97C>T substitution 14_in - variant - variant RB1_01110 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.76864T>G c.1390-25T>G substitution 14_in - variant - variant RB1_01046 - G375 no cancer - blood DNA - - Lohmann et al., 1996 1 published -
?/? g.76872del c.1390-17del deletion 14_in - variant - variant RB1_01047 - G468 no cancer - blood DNA - - Lohmann et al., 1996 1 published -
?/? g.76875A>G c.1390-14A>G substitution 14_in altered splicing - - splice RB1_00919 - Fam782 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76875A>G c.1390-14A>G substitution 14_in altered splicing - - splice RB1_00919 - T4 unilateral rb somatic retinoblastoma DNA heterozygous isolated Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - not provided bilateral rb germline blood DNA - familial Alonso et al. (2004) Genes Chromosomes Cancer 40(3): 271-5. 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - not provided - - nd DNA - - Lohmann - Essen 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - SR09 unilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - SR20 unilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - SR22 unilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - SR25 unilateral rb germline blood DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - not provided retinoblastoma unknown nd DNA unknown familial Alonso et al. (2001) Hum Mutat. 2001 May;17(5):437. 1 published -
?/? g.76875A>T c.1390-14A>T substitution 14_in - variant - variant RB1_00517 - not provided retinoblastoma - nd DNA unknown unknown dbSNP 1 - -
?/? g.76886del c.1390-3del deletion 14_in - - - - RB1_00920 - Fam859 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76888G>A c.1390-1G>A Substitution 14_in - - - unknown RB1_01735 somatic ng_un_is_tu_337 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76888G>C c.1390-1G>C substitution 14_in altered splicing - - splice RB1_00817 germline Fam480 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
+/? - c.1412_1421+14del Deletion 14_ex - p.Gln471Profs*4 - frameshift RB1_01979 somatic fam-no_20043407 retinoblastoma somatic blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published Previously reported in Mol et al. 2014
?/+ g.76889G>T c.1390G>T substitution 15_ex - p.Glu464X/splice - nonsense RB1_00642 - 13b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76889G>T c.1390G>T substitution 15_ex - p.Glu464X/splice - nonsense RB1_00642 - 13b unilateral rb germline blood DNA - - JL Gala - Brussels 1 unpublished -
?/+ g.76889_77027del c.1390_1448del deletion 15_ex - p.Glu464TyrfsX8 - frameshift RB1_00265 - 4 unilateral rb germline blood DNA not reported isolated Zajaczek et al., 1998 1 published -
?/? g.76892G>T c.1393G>T Substitution 15_ex - - - unknown RB1_01681 somatic ge_uni_iso_tu25 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished c.1393G>T+ c.1399C>T found in tumor, c.1128-2A>G mosaic in blood
?/? g.76894delA c.1395delA Deletion 15_ex - p.(Glu466Asnfs*12) - frameshift RB1_01925 unknown Supp_Tab_Mt-61 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.76895G>T c.1396G>T substitution 15_ex - p.Glu466X - nonsense RB1_00507 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
+/? - c.1398del Deletion 15_ex - p.Glu466Aspfs*12 - frameshift RB1_01978 germline fam-no_20114136 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published Identified in 2 unrelated patients
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - RB127 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - G1001 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - G430 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - G496 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - KS-163 other tumor somatic osteosarcoma DNA homozygous - Wadayama et al., 1994 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E3T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E687T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E711T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - RB60 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - - nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam44 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam235 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam481 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam493 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam145 bilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E5108 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E1051 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E1142 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E1748 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E22 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E2570 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E2787 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E3878 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - - nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam221 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam121 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam495 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam610 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam622 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam880 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
1701 - 1800
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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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