ATM c.1558G>C ;(p.D520H)

Variant ID: 11-108121750-G-C

NM_000051.3(ATM):c.1558G>C;(p.D520H)

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:

Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.

Scientific Reports
Marzouka, Nour-Al-Dain NA; Lindgren, David D; Eriksson, Pontus P; Sjödahl, Gottfrid G; Bernardo, Carina C; Liedberg, Fredrik F; Axelson, Håkan H; Höglund, Mattias M
Publication Date: 2020-11-11

Variant appearance in text: ATM: 1558G>C; D520H
PubMed Link: 33177554
Variant Present in the following documents:
  • 41598_2020_75854_MOESM1_ESM.xlsx, sheet 8
View BVdb publication page