ATM c.173A>C ;(p.D58A)

Variant ID: 11-108098603-A-C

NM_000051.3(ATM):c.173A>C;(p.D58A)

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:

Genetic aberrations in iPSCs are introduced by a transient G1/S cell cycle checkpoint deficiency.

Nature Communications
Araki, Ryoko R; Hoki, Yuko Y; Suga, Tomo T; Obara, Chizuka C; Sunayama, Misato M; Imadome, Kaori K; Fujita, Mayumi M; Kamimura, Satoshi S; Nakamura, Miki M; Wakayama, Sayaka S; Nagy, Andras A; Wakayama, Teruhiko T; Abe, Masumi M
Publication Date: 2020-01-10

Variant appearance in text: ATM: D58A
PubMed Link: 31924765
Variant Present in the following documents:
  • Main text
View BVdb publication page