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LOVD - Variant listings for RB1

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978 public entries
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?/? g.914C>T c.-1146C>T substitution 00_up - variant - variant RB1_00995 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1219C>T c.-841C>T substitution 00_up - variant - variant RB1_00997 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.1282C>T c.-778C>T substitution 00_up - variant - variant RB1_00998 - not provided no cancer germline blood DNA - - dbSNP 1 published originally published: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1601C>T c.-459C>T substitution 00_up - variant - variant RB1_01001 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported by Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1718C>T c.-342C>T substitution 00_up - variant - variant RB1_00953 - Fam539 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto rs4151418 1 unpublished -
-?/? g.1772C>T c.-288C>T Substitution 00_up regulatory - - unknown RB1_01855 unknown family 2136 bilateral rb unknown nd DNA - isolated Gallie:Toronto 1 unpublished -
?/? g.2078del c.19C>T Substitution 01_ex - p.Arg7X - nonsense RB1_01672 germline ge_uni_iso_tu_2 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - GOS19 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - 156 unilateral rb - blood DNA - - - 1 unpublished Hetero in blood. No tumor available. Previously found by DL in uni proband and father?s blood but not in homozygous tumor; CD found this in two bilateral patients with known null mutations.
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - nd bilateral rb - nd DNA - familial - 1 - Remarks: see RBWiki
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - not provided unilateral rb germline blood DNA - isolated Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - 2u unilateral rb germline blood DNA - familial lp Brichard et al. 2006,Eur J Cancer. 2006 Jan;42(1):65-72 1 published -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - BG#519 (619) unilateral rb - nd DNA - isolated Richter et al. (2003) Am J Hum Genet. 2003 Feb; 72(2): 253-69 1 published Tumor w/ het c.2536insC, het. promoter methyl + het Pro20Leu, blood only Pro20Leu
?/-? g.2127C>T c.68C>T Substitution 01_ex - p.Pro23Leu [Pro23Leu] unknown RB1_01456 - nd unilateral rb - tumor + blood DNA - - - 1 - In tumour + blood DNA of unilateral patient and unaffected father, tumour has two other deleterious mutations not present in patient?s blood DNA
?/+ g.2162C>T c.103C>T substitution 01_ex - p.Gln35X - nonsense RB1_00319 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.2162C>T c.103C>T substitution 01_ex - p.Gln35X - nonsense RB1_00319 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.2162C>T c.103C>T substitution 01_ex - p.Gln35X - nonsense RB1_00319 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.2281C>T c.137+85C>T substitution 01_in - variant - variant RB1_01095 unknown not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.5300C>T c.138-124C>T substitution 01_in - variant - variant RB1_01003 - not provided no cancer - nd DNA - - - 1 published -
?/-? g.5459C>T c.173C>T Substitution 02_ex - p.Thr58Ile - unknown RB1_01566 germline 1KG_13_48881451 - germline blood DNA - - http://www.1000genomes.org/ 1 published -
?/+ g.5470C>T c.184C>T substitution 02_ex - p.Gln62* - nonsense RB1_00027 somatic E527T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann et al., 1997 1 published COSMIC - COSM893
?/+ g.5470C>T c.184C>T substitution 02_ex - p.Gln62X - nonsense RB1_00027 - Fam948 bilateral rb germline nd DNA - not reported not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.39458C>T c.277C>T substitution 03_ex - p.Gln93X - nonsense RB1_01363 - RB-37 unilateral rb germline blood DNA - isolated - 1 published -
?/+ g.39542C>T c.361C>T substitution 03_ex - p.Gln121X - nonsense RB1_00440 unknown E3221 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.39606C>T c.380+45C>T substitution 03_in - variant - variant RB1_00987 - not provided no cancer - nd DNA - - Blanquet et al., 1993 1 published -
?/? g.39606C>T c.380+45C>T substitution 03_in - variant - variant RB1_00987 - not provided no cancer - blood DNA - - Mateu et al., 1997 1 published -
?/? g.39606C>T c.380+45C>T substitution 03_in - variant - variant RB1_00987 - not provided no cancer germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.41930C>T c.385C>T Substitution 04_ex - p.His129Tyr - missense RB1_01413 - SH-1 bilateral rb - nd DNA - - - 1 - Mutation was absent in peripheral blood from both parents
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - not provided bilateral rb somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - Fam713 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - 20 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.45718C>T c.540-81C>T substitution 05_in - variant - variant RB1_01101 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.45830C>T c.571C>T substitution 06_ex - p.Leu191Leu Leu191Leu unknown RB1_01353 - not provided bilateral rb germline blood DNA - familial lp - 1 unpublished -
?/? g.56822C>T c.608-31C>T substitution 06_in - variant - variant RB1_01021 - not provided no cancer germline blood DNA - - dbSNP 1 published Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.56826C>T c.608-27C>T substitution 06_in - - - - RB1_01066 - E2621 unilateral rb - nd DNA - - Lohmann - Essen 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.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.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.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 -
?/+ 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 -
?/+ 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 - E627T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - G422 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - G383 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - G405 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E502 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E540 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - G319 unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E463T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - #344 unilateral rb somatic retinoblastoma DNA homozygous - Sippel et al., 1998 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam414 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam432 bilateral rb germline nd DNA - not reported Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam630 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam196 unilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Yu49 bilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Rb67 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided unilateral rb germline blood DNA - isolated Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb germline blood DNA - familial Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E3908 bilateral rb germline nd DNA - unknown Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided unilateral rb somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb - nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E1931 bilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E2134 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E2239 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen, Germany:Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E2853 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided - somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E3799 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E3589 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E4564 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E2706 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E5508 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - E4755 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - not provided - somatic retinoblastoma DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam589 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam657 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam818 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam721 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam811 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam90 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam549 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - Fam622 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
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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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