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LOVD - Variant listings for RB1

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?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E427 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E532 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E567 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E1560 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E1760 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E1894 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E2136 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E5333 - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided - germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E3674 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided - somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E3662 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E3837 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E4337 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E3900 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam932 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam328 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam361 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam457 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam505 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam534 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam697 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam730 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam732 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam773 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam816 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam839 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam847 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam957 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam675 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam719 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam737 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam826 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam889 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam894 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam108 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam731 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam765 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam246 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam267 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 4b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 4b rb germline nd DNA - - - 1 - -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 0823 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 0993 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 1113 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 1173 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - CO402 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 31 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - F2187 bilateral rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 8 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 9 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - RB-2 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - RB-41 unilateral rb germline blood DNA - isolated - 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - RB-48 bilateral rb germline blood DNA - isolated - 1 published -
+/? g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - IRB6 unilateral rb somatic Retinoblastoma Tumor DNA hemi/homozygous - Iran:Tehran 1 - -
?/? g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 22 371 bilateral rb unknown nd DNA unknown isolated Munier - Lausanne 1 - parents tested, no mutation was found here
?/? g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - 22 175 unilateral rb - nd DNA unknown unknown Munier - Lausanne 1 - Mutation was not found in parents
?/? g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 unknown 22 601 unilateral rb unknown tumor DNA - - Munier - Lausanne 1 - Mother and brother were tested, no mutation found here
?/? g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 somatic 891 - somatic nd DNA - - COSMIC - COSM891 1 - Observed 9 times in 9 samples
?/? g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 germline RB54tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 somatic #712 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
?/? g.64348del c.958del Deletion 10_ex - p.(Arg320Aspfs*12) - frameshift RB1_02059 germline P_20140723_160 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.64353C>A c.963C>A substitution 10_ex - p.Tyr321X - nonsense RB1_00659 - Fam402 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64353C>A c.963C>A substitution 10_ex - p.Tyr321X - nonsense RB1_00659 - CO415 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.64353C>A c.963C>A substitution 10_ex - p.Tyr321X - nonsense RB1_00659 somatic NCI-H1417 other cancer somatic nd DNA - - COSMIC - COSM13138 1 - -
+/? - c.963C>G Substitution 10_ex - p.(Tyr321*) - nonsense RB1_02037 unknown Tab_1_4 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/+ g.64354G>T c.964G>T substitution 10_ex - p.Glu322X - nonsense RB1_00357 - G368 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.64354G>T c.964G>T substitution 10_ex - p.Glu322X - nonsense RB1_00357 - not provided - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.64354G>T c.964G>T substitution 10_ex - p.Glu322X - nonsense RB1_00357 - Fam939 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.64354G>T c.964G>T substitution 10_ex - p.Glu322X - nonsense RB1_00357 - F4603 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.64357G>T c.967G>T substitution 10_ex - p.Glu323X - nonsense RB1_00074 - GOS563 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.64357G>T c.967G>T substitution 10_ex - p.Glu323X - nonsense RB1_00074 - Fam467 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64357G>T c.967G>T substitution 10_ex - p.Glu323X - nonsense RB1_00074 - Fam613 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64357G>T c.967G>T substitution 10_ex - p.Glu323X - nonsense RB1_00074 - CU025 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
+/? g.64357G>T c.967G>T substitution 10_ex - p.Glu323X - nonsense RB1_00074 unknown Tab_1_5 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.64360dupA c.970dup Duplication 10_ex - p.Ile324Asnfs*4 - unknown RB1_01544 somatic NCI-H748 other cancer somatic nd DNA - - COSMIC - COSM25262 1 published -
?/? g.64362_64365del4 c.972_975delTTAT Deletion 10_ex - p.(Tyr325Leufs*6) - frameshift RB1_01940 unknown Supp_Tab_Mt-43 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.64363del c.973del deletion 10_ex - p.Tyr325Ilefs*7 - frameshift RB1_00371 germline E2716 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.64365T>A c.975T>A Substitution 10_ex - p.Tyr325X - nonsense RB1_01510 somatic 5637 other cancer somatic nd DNA - - COSMIC - COSM13136 1 published -
?/+ g.64365T>G c.975T>G substitution 10_ex - p.Tyr325X - nonsense RB1_00480 - RB40 unilateral rb germline retinoblastoma DNA heterozygous - Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.64368del c.978del deletion 10_ex - - - frameshift RB1_00498 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
1001 - 1100
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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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