LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002704)
Patient ID H69
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM868
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.162027G>T
cDNA change c.2242G>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 22_ex
RNA change -
Protein p.Glu748X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00010
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.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 somatic

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