EPN3 c.1189_1202del ;(p.K397Wfs*3)

Variant ID: 17-48618359-CCACAAACTCCCCAG-C

NM_017957.2(EPN3):c.1189_1202del;(p.K397Wfs*3)

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: EPN3: 1189_1202delAAACTCCCCAGCAC
PubMed Link: 32242007
Variant Present in the following documents:
  • 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page