LOVD - Variant listings for RB1

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?/? g.2196G>C c.137G>C substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.2196G>C c.137G>C substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 - Fam669 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2196G>C c.137G>C substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 - 1 bilateral rb - blood DNA - - - 1 unpublished White and American Indian or Alaska native
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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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