UPB1 c.163C>T ;(p.Q55*)

Variant ID: 22-24896133-C-T

NM_016327.2(UPB1):c.163C>T;(p.Q55*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02

Variant appearance in text: UPB1: 163C>T; Gln55Ter
PubMed Link: 32242007
Variant Present in the following documents:
  • 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page