LOVD - Variant listings for RB1

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Patient data (#0002641)
Patient ID Br121X
Phenotype -
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM39160, Parsons et al, 2008
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.5511G>A
cDNA change c.225G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 02_ex
RNA change Stop gained
Protein p.Trp75X
RBWiki -
expected consequence type unknown
DB-ID RB1_01495
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.5511G>A c.225G>A Substitution 02_ex Stop gained p.Trp75X - unknown RB1_01495 somatic

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