LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000678)
Patient ID Fam2
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Richter et al. (2003) Am J Hum Genet 72(2): 253-69.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.45843G>A
cDNA change c.584G>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 06_ex
RNA change -
Protein p.Trp195X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00963
originated_in somatic

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/+ Unknown g.45843G>A c.584G>A substitution 06_ex - p.Trp195X - nonsense RB1_00963 somatic

Please help to improve the quality of the data and report any error that you may find!