LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002696)
Patient ID 16668
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM48894, Ding et al., 2008
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.78273G>A
cDNA change c.1689G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 17_ex
RNA change -
Protein p.Trp563X
RBWiki -
expected consequence type nonsense
DB-ID RB1_01512
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.78273G>A c.1689G>A Substitution 17_ex - p.Trp563X - nonsense RB1_01512 somatic

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