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LOVD - Variant listings for RB1

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?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - G449 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - RB-53 bilateral rb germline blood DNA - - Yandell et al., 1989 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E16 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E514 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Pedigree 327 unilateral rb somatic retinoblastoma DNA heterozygous - Dryja et al. (1993) Am J Hum Genet 52:1122-8 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam547 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam182 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam352 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam390 bilateral rb germline nd DNA - not reported Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - JA543 bilateral rb germline blood DNA - familial Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E1025 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E5410 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E1944 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E2772 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E3205 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E3541 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E437 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided - germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam455 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam479 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam707 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam755 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam774 unilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam629 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 5u unilateral rb germline blood DNA - isolated - 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 5u rb germline nd DNA - isolated - 1 - -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 197/97 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 237 bilateral rb germline blood DNA - isolated Dalamon et al. (2004) J Biochem Mol Biol 37: 246 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - CO313 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 29 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - T15 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F3020 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F5058 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 24 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 25 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 26 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided rb germline blood DNA - - Zhang et al. (1997) Yan Ke Xue Bao 13: 5 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - RB-56 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F9; pt# 16 bilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F9; pt# 17 unilateral rb/retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.162237C>T c.2359C>T
    + c.1332+1G>A		 substitution 23_ex - p.Arg787X - nonsense RB1_00005 germline E2550 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.162237C>T c.2359C>T
    + c.1333-2A>G		 substitution 23_ex - p.Arg787X - nonsense RB1_00005 somatic E5516 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 germline RB5 bilateral rb germline blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 somatic TCGA-02-0007 other cancer somatic nd DNA - - COSMIC - COSM23824 1 published -
?/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787* - nonsense RB1_00005 germline #779 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
+/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 unknown Tab_1_14 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.162270C>T c.2392C>T substitution 23_ex - p.Arg798Trp - - RB1_01373 - PA-1 other cancer - ovarian carcinoma cell li DNA heterozygous - - 1 published ovarian cancer
?/? g.162300C>T c.2422C>T Substitution 23_ex - p.Pro808Ser - missense RB1_02013 somatic #748 bilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
-?/-? g.162333C>T c.2455C>T Substitution 23_ex - p.Leu819Leu p.Leu819Leu silent RB1_01451 - E2605 unilateral rb germline blood and tumor DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished also detecte in mother and grandmother both without tumor
?/+ g.170383C>T c.2501C>T substitution 24_ex - p.Ser834X - nonsense RB1_00607 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.170399C>T c.2517C>T Substitution 24_ex - - - unknown RB1_01824 somatic S83193 other cancer somatic tumor DNA - - COSMIC - COSM924 1 published -
?/+ g.173722C>T c.2536C>T substitution 25_ex - p.Gln846X - nonsense RB1_00685 - Fam345 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.173722C>T c.2536C>T substitution 25_ex - p.Gln846X - nonsense RB1_00685 - Fam155 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 - E1479 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 - Fam786 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 - Fam792 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 somatic NCI-H146 other cancer somatic nd DNA - - COSMIC - COSM13404 1 published -
?/? g.173812C>T c.2626C>T Substitution 25_ex - p.Arg876Cys - unknown RB1_01816 somatic 1KG_13_49050942 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.173894C>T c.2663+45C>T Substitution 25_in - - - unknown RB1_01774 somatic ng_un_is_notu_4 no cancer somatic nd DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.174438C>T c.2713+28C>T substitution 26_in - variant - variant RB1_01132 - not provided rb germline blood DNA - - Leone et al. (2003) J Hum Genet 48(12): 639-41. 1 published -
?/? g.174438C>T c.2713+28C>T substitution 26_in - variant - variant RB1_01132 - not provided no cancer - nd DNA - - dbSNP 1 published -
901 - 978
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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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