ATM c.7088A>G ;(p.K2363R)

Variant ID: 11-108198484-A-G

NM_000051.3(ATM):c.7088A>G;(p.K2363R)

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:

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

Frontiers In Immunology
Mandola, Amarilla B AB; Reid, Brenda B; Sirror, Raga R; Brager, Rae R; Dent, Peter P; Chakroborty, Pranesh P; Bulman, Dennis E DE; Roifman, Chaim M CM
Publication Date: 2019

Variant appearance in text: ATM: Lys2363Arg
PubMed Link: 31921190
Variant Present in the following documents:
  • Main text
  • fimmu-10-02940.pdf
View BVdb publication page