ATM c.2164T>C ;(p.L722=)

Variant ID: 11-108126981-T-C

NM_000051.3(ATM):c.2164T>C;(p.L722=)

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:

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports
Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M
Publication Date: 2019-12-27

Variant appearance in text: ATM: 2164T>C
PubMed Link: 31882575
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_55515.pdf
View BVdb publication page