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LOVD - Variant listings for RB1

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?/+ 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 -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - CU033 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - RB18 unilateral rb - retinoblastoma DNA - - de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - 33 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - T34 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - F5136 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - 6 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - 7 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.59683C>T c.751C>T
    + c.1333C>T		 substitution 08_ex - p.Arg251X - nonsense RB1_00062 germline E579 bilateral rb germline tumor DNA heterozygous familial Lohmann - Essen, Germany:Essen 1 unpublished -
?/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 somatic Patient 1 unilateral rb somatic tumor DNA - - Kumaramanickavel et al., (2003), J Genet.82(1-2):39-44. 1 published -
?/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 germline #4 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 somatic #154/2013 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
+/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 unknown Tab_1_3 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
+/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 germline RB15 bilateral rb germline blood DNA - isolated Malaysia:Kuala Lumpur 1 unpublished -
1 - 70

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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