ATM c.4040del ;(p.L1347Yfs*2)

Variant ID: 11-108158371-GT-G

NM_000051.3(ATM):c.4040del;(p.L1347Yfs*2)

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:

Classic ataxia-telangiectasia: the phenotype of long-term survivors.

Journal Of Neurology
van Os, Nienke J H NJH; van Deuren, Marcel M; Weemaes, Corry M R CMR; van Gaalen, Judith J; Hijdra, Helma H; Taylor, Alexander M R AMR; van de Warrenburg, Bart P C BPC; Willemsen, Michèl A A P MAAP
Publication Date: 2020-03

Variant appearance in text: ATM: 4040delT; Leu1347TyrfsX2
PubMed Link: 31776720
Variant Present in the following documents:
  • Main text
  • 415_2019_Article_9641.pdf
View BVdb publication page