ATM c.162T>A ;(p.Y54*)

Variant ID: 11-108098592-T-A

NM_000051.3(ATM):c.162T>A;(p.Y54*)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: ATM: 162T>A; Tyr54Ter
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_4791.pdf
  • 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page


Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: ATM: 162T>A; Tyr54Ter
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_4791.pdf
  • 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page


Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities.

Molecular Genetics & Genomic Medicine
Yang, Meirong M; Lu, Xiaosheng X; Zhang, Ye Y; Wang, Changchen C; Cai, Zhen Z; Li, Zhengyong Z; Pan, Bo B; Jiang, Haiyue H
Publication Date: 2021-05

Variant appearance in text: ATD: Y54*
PubMed Link: 33811463
Variant Present in the following documents:
  • Main text
View BVdb publication page