ATM c.2503_2504delinsTC ;(p.V835S)

Variant ID: 11-108137934-GT-TC

NM_000051.3(ATM):c.2503_2504delinsTC;(p.V835S)

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:

The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.

Biomed Research International
Bisgin, Atil A; Boga, Ibrahim I; Yilmaz, Mustafa M; Bingol, Gulbin G; Altintas, Derya D
Publication Date: 2018

Variant appearance in text: ATM: V835S
PubMed Link: 29888287
Variant Present in the following documents:
  • Main text
  • BMRI2018-9647253.pdf
View BVdb publication page