ATM c.4007_4008insA ;(p.F1336Lfs*3)

Variant ID: 11-108158340-T-TA

NM_000051.3(ATM):c.4007_4008insA;(p.F1336Lfs*3)

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:

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Molecular Genetics & Genomic Medicine
Podralska, Marta Joanna MJ; Stembalska, Agnieszka A; Ślęzak, Ryszard R; Lewandowicz-Uszyńska, Aleksandra A; Pietrucha, Barbara B; Kołtan, Sylwia S; Wigowska-Sowińska, Jadwiga J; Pilch, Jacek J; Mosor, Maria M; Ziółkowska-Suchanek, Iwona I; Dzikiewicz-Krawczyk, Agnieszka A; Słomski, Ryszard R
Publication Date: 2014-11

Variant appearance in text: ATM: 4007_4008insA
PubMed Link: 25614872
Variant Present in the following documents:
  • Main text
  • mgg30002-0504.pdf
View BVdb publication page