ATM c.204del ;(p.Q69Rfs*7)

Variant ID: 11-108099921-AT-A

NM_000051.3(ATM):c.204del;(p.Q69Rfs*7)

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:

The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.

Balkan Journal Of Medical Genetics : Bjmg
Muthaffar, O Y OY
Publication Date: 2020-11

Variant appearance in text: ATM: 204del
PubMed Link: 33816068
Variant Present in the following documents:
  • bjmg-23-017.pdf
View BVdb publication page