LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002643)
Patient ID 16802
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM48893
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.5521G>T
cDNA change c.235G>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 02_ex
RNA change Stop gained
Protein p.Glu79X
RBWiki -
expected consequence type unknown
DB-ID RB1_01497
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.5521G>T c.235G>T Substitution 02_ex Stop gained p.Glu79X - unknown RB1_01497 somatic

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