LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002723)
Patient ID SF539
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM18661
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.39527_39530del
cDNA change c.346_349del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 03_ex
RNA change -
Protein p.Thr116Leufs*8
RBWiki -
expected consequence type frameshift
DB-ID RB1_01524
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.39527_39530del c.346_349del Deletion 03_ex - p.Thr116Leufs*8 - frameshift RB1_01524 somatic

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