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LOVD - Variant listings for RB1

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?/? 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14_in altered splicing - - splice RB1_00205 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -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altered splicing - - splice RB1_00205 - Fam784 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -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 -
?/? 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.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somatic ng_un_is_tu_337 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -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.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 - Fam893 unilateral rb somatic retinoblastoma DNA - possibly familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 - Fam441 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 - T13 unilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29:475 1 published -
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 somatic S86828 retinoblastoma somatic nd DNA - - Leone et al., 2003 (COSM1050) 1 published probably damaging/ deleterious
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 germline RB4tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.76921G>A c.1421+1G>A substitution 15_in altered splicing - - splice RB1_00313 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.76921G>A c.1421+1G>A substitution 15_in altered splicing - - splice RB1_00313 - E774 bilateral rb - nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.77000G>A c.1422-1G>A substitution 15_in skip exon 16 skip exon 16 - splice RB1_00638 - not provided bilateral rb germline nd DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.77000G>A c.1422-1G>A substitution 15_in skip exon 16 skip exon 16 - splice RB1_00638 - Fam38 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.77000G>A c.1422-1G>A substitution 15_in skip exon 16 skip exon 16 - splice RB1_00638 - Fam772 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.77045G>A c.1466G>A Substitution 16_ex - p.Cys489Tyr - missense RB1_01684 somatic ge_uni_iso_tu36 unilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? - c.1468G>A Substitution 16_ex - p.(Ala490Thr) - missense RB1_02044 unknown Tab_1_28 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.77078G>A c.1498+1G>A substitution 16_in skip exon 17 skip exon 17 - splice RB1_00333 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.77078G>A c.1498+1G>A substitution 16_in skip exon 17 skip exon 17 - splice RB1_00333 - E1866T unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.77078G>A c.1498+1G>A substitution 16_in skip exon 17 skip exon 17 - splice RB1_00333 somatic NCI-H2330 other cancer somatic tumor DNA - - COSMIC - COSM13737 1 published -
?/? g.77082G>A c.1498+5G>A substitution 16_in altered splicing - - splice RB1_00207 - G393 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/? g.77082G>A c.1498+5G>A substitution 16_in altered splicing - - splice RB1_00207 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.78082G>A c.1499-1G>A substitution 16_in altered splicing - - splice RB1_01146 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.78082G>A c.1499-1G>A substitution 16_in altered splicing - - splice RB1_01146 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/+ g.78131G>A c.1547G>A substitution 17_ex - p.Trp516* - nonsense RB1_00481 germline RB59 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 somatic #757 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
?/? g.78273G>A c.1689G>A Substitution 17_ex - p.Trp563X - nonsense RB1_01512 somatic 16668 other cancer somatic nd DNA - - COSMIC - COSM48894, Ding et al., 2008 1 published -
+/? g.78273G>A c.1689G>A Substitution 17_ex - p.Trp563X - nonsense RB1_01512 unknown Tab_1_11 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.78280G>A c.1695+1G>A Substitution 17_in Splice site - - splice RB1_01577 germline RB32tunesia bilateral rb germline blood DNA - familial - 1 unpublished -
?/? g.78284G>A c.1695+5G>A substitution 17_in altered splicing - - splice RB1_00911 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.78284G>A c.1695+5G>A substitution 17_in altered splicing - - splice RB1_00911 - Fam748 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.149997A>G c.1696-1G>A substitution 17_in altered splicing - - splice RB1_00209 - RB173 bilateral rb germline blood DNA - - Blanquet et al., 1995 1 published -
?/? g.149997A>G c.1696-1G>A substitution 17_in altered splicing - - splice RB1_00209 - RB296 bilateral rb germline blood DNA - - Blanquet et al., 1995 1 published -
?/? g.149997A>G c.1696-1G>A substitution 17_in altered splicing - - splice RB1_00209 - TS94 - germline blood DNA not reported - Cowell et al., 1994 1 published -
?/? g.149998G>A c.1696G>A substitution 18_ex altered splicing - - splice RB1_01319 - 10 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.150117G>A c.1814+1G>A substitution 18_in simple skip simple skip - splice RB1_00274 - ID068 unilateral rb somatic retinoblastoma DNA heterozygous - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.150117G>A c.1814+1G>A substitution 18_in simple skip simple skip - splice RB1_00274 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.150117G>A c.1814+1G>A substitution 18_in simple skip simple skip - splice RB1_00274 - not provided - somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.150117G>A c.1814+1G>A substitution 18_in simple skip simple skip - splice RB1_00274 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.153207G>A c.1815-1G>A substitution 18_in altered splicing - - splice RB1_01150 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.153358 G>A Substitution 19 c.1960+5G>A - - splice RB1_02110 germline 02 bilateral rb germline peripheral blood DNA unknown isolated Brazil:Rio de Janeiro 1 unpublished -
?/? g.153253G>A c.1860G>A substitution 19_ex - variant - variant RB1_01055 - G421 no cancer - blood DNA - - Lohmann et al., 1996 1 published -
-?/-? - c.1876G>A
    + c.1693_1694dup, c.1815-5T>C, c.1966C>T		 Substitution 19_ex - p.Ala626Thr - missense RB1_01873 unknown #2226 bilateral rb germline blood DNA unknown familial Gallie:Toronto 1 unpublished Patient is heterozygous for a frameshift alteration and for two missense alterations.
?/? g.153353G>A c.1960G>A substitution 19_ex - p.Val654Met/splice - missense-splice RB1_00764 - 001-URB unilateral rb germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - E538T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - F4481 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - 21 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
+/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 germline RB1 bilateral rb germline blood DNA - isolated Malaysia:Kuala Lumpur 1 unpublished -
?/? g.156692G>A c.1961-1G>A Substitution 19_in Essential splice site - - unknown RB1_01487 somatic C-33-A other cancer somatic tumor DNA - - COSMIC - COSM1030 1 published -
?/? g.156692G>A c.1961-1G>A Substitution 19_in Essential splice site - - unknown RB1_01487 somatic SJRB004 retinoblastoma somatic tumor DNA - - COSM1030 Zhang et al., Nature. 2012;481;329-34 1 published -
?/? g.156704G>A c.1972G>A Substitution 20_ex - p.Ala658Thr - unknown RB1_01580 unknown SNP13-47931836 - unknown nd DNA - - OMNI 1 - -
?/+ g.156774G>A c.2042G>A substitution 20_ex - p.Trp681X - nonsense RB1_00964 - Fam344 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
+/+ g.15677gG>A c.2043G>A Substitution 20_ex - p.Trp681* - nonsense RB1_01859 somatic E5975 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 - -
?/? g.156775G>A c.2043G>A Substitution 20_ex - p.(Trp681*) - nonsense RB1_01913 unknown Supp_Tab_Mt-89 - - nd DNA - - Price et al., 2013 1 published -
?/? g.160729G>A c.2107-1G>A substitution 20_in altered splicing - - splice RB1_00424 - E2922T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.160729G>A c.2107-1G>A substitution 20_in altered splicing - - splice RB1_00424 - R18 bilateral rb somatic retinoblastoma DNA - isolated Bamme et al. (2005) Genet Test. 3 (9):200-211 1 published -
?/? g.160729G>A c.2107-1G>A substitution 20_in altered splicing - - splice RB1_00424 somatic 17763 other cancer somatic tumor DNA - - COSMIC - COSM49011 1 published -
?/? g.160740G>A c.2117G>A substitution 21_ex - p.Cys706Tyr - missense RB1_00159 - RB210 bilateral rb germline blood DNA - isolated Kato et al., 1994 1 published -
?/? g.160740G>A c.2117G>A substitution 21_ex - p.Cys706Tyr - missense RB1_00159 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.160775G>A c.2152G>A substitution 21_ex - p.Asp718Asn - missense RB1_00522 - Rb8 unilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.160834G>A c.2211G>A substitution 21_ex skip exon 21 skip exon 21 - splice RB1_00021 - RTB-120 rb germline blood DNA not reported familial lp Schubert et al., 1997 1 published -
?/? g.160834G>A c.2211G>A substitution 21_ex skip exon 21 skip exon 21 - splice RB1_00021 - Fam441 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.160835G>A c.2211+1G>A substitution 21_in altered splicing - - splice RB1_00510 - 3 bilateral rb germline blood DNA - isolated Jakubowska,et al. (2001) Hum Mutat 18(5): 459. 1 published -
?/? g.160839G>A c.2211+5G>A substitution 21_in altered splicing - - splice RB1_00219 - not provided rb germline SCLC DNA - familial Weir-Thompson et al., 1991 1 published -
+?/? g.160839 c.2211+5g>a Substitution 21 - - - splice RB1_00219 - 491 bilateral rb germline blood DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+?/? g.160839G>A c.2211+5G>A Substitution 21 - - - splice RB1_00219 germline 491 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.161996G>A c.2212-1G>A substitution 21_in altered splicing - - splice RB1_00218 - RB570C bilateral rb somatic retinoblastoma DNA heterozygous isolated Dunn et al., 1989 1 published -
?/? g.161996G>A c.2212-1G>A substitution 21_in altered splicing - - splice RB1_00218 - Fam796 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.161996G>A c.2212-1G>A substitution 21_in altered splicing - - splice RB1_00218 somatic Br131X other cancer somatic tumor DNA - - COSMIC - COSM39454 1 published -
?/? g.162111G>A c.2325+1G>A substitution 22_in skip exon 21 skip exon 21 - splice RB1_00330 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.162111G>A c.2325+1G>A substitution 22_in skip exon 21 skip exon 21 - splice RB1_00330 - not provided bilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162115G>A c.2325+5G>A Substitution 22_in splice_donor - - splice RB1_01904 unknown Supp_Tab_Mt-99 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162203G>A c.2326-1G>A substitution 22_in altered splicing - - splice RB1_00924 - Fam729 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162238G>A c.2360G>A substitution 23_ex - p.Arg787Gln - - RB1_01316 - 1093 unilateral rb germline blood DNA - familial lp Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.162271G>A c.2393G>A substitution 23_ex - p.Arg798Gln - missense RB1_00572 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? - c.2393G>A Substitution 23 r.2326_2489delins2325+1_2325+11; r.2393G>A p.Pro776_Arg830delinsValGlyGlnLys; p.Arg798Gln - splice RB1_00572 germline 102/18 other cancer germline blood DNA unknown unknown Italy:Siena 1 - -
+?/? g.162368G>A c.2489+1G>A Substitution 23_in - - - splice RB1_01541 germline 541 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.162372G>A c.2489+5G>A substitution 23_in skip skip - splice RB1_00248 germline E268 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.170371G>A c.2490-1G>A Substitution 23_in splice_acceptor - - splice RB1_01908 unknown Supp_Tab_Mt-110 - - nd DNA - - Price et al., 2013 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - Fam430 bilateral rb somatic retinoblastoma DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - Rb74 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - Fam316 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 somatic NCI-N417 other cancer somatic tumor DNA - - COSMIC - COSM13739 1 published -
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - not provided bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - not provided unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - 0853 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - CU035 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.173696G>A c.2521-11G>A substitution 24_in - variant - variant RB1_01062 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
+/? - c.2490–1G>A Substitution 25_ex - - - splice RB1_02042 unknown Tab_1_21 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.173752G>A c.2566G>A Substitution 25_ex - p.Asp856Asn - unknown RB1_01815 somatic 1KG_13_49050882 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.173849G>A c.2663G>A Substitution 25_ex Substitution p.(Ser888Asn) - splice RB1_01876 unknown Supp_Tab_Mt-111 - - nd DNA - - Price et al., 2013 1 published -
?/? g.173850G>A c.2663+1G>A substitution 25_in altered splicing - - splice RB1_00960 - not provided - germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/? g.173850G>A c.2663+1G>A substitution 25_in altered splicing - - splice RB1_00960 - Fam567 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
201 - 300
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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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