ATM c.2053A>C ;(p.N685H)

Variant ID: 11-108124695-A-C

NM_000051.3(ATM):c.2053A>C;(p.N685H)

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:

Human GRIN2B variants in neurodevelopmental disorders.

Journal Of Pharmacological Sciences
Hu, Chun C; Chen, Wenjuan W; Myers, Scott J SJ; Yuan, Hongjie H; Traynelis, Stephen F SF
Publication Date: 2016-10

Variant appearance in text: ATD: 2053A>C
PubMed Link: 27818011
Variant Present in the following documents:
  • Main text
View BVdb publication page