ATM c.548A>T ;(p.H183L)

Variant ID: 11-108114731-A-T

NM_000051.3(ATM):c.548A>T;(p.H183L)

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:

American Society of Pediatric Hematology/Oncology (ASPHO), David L. Lawrence Convention Center, Pittsburgh, PA, May 2-5, 2018.

Pediatric Blood & Cancer
Publication Date: 2018-06

Variant appearance in text: ATM: 548A>T
PubMed Link: 29603868
Variant Present in the following documents:
  • Main text
View BVdb publication page