ATM c.381A>G ;(p.T127=)

Variant ID: 11-108106446-A-G

NM_000051.3(ATM):c.381A>G;(p.T127=)

This variant was identified in 1 publication

View GRCh38 version.




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: Thr127Thr
PubMed Link: 25614872
Variant Present in the following documents:
  • Main text
  • mgg30002-0504.pdf
View BVdb publication page