ATM c.3444T>A ;(p.Y1148*)

Variant ID: 11-108151763-T-A

NM_000051.3(ATM):c.3444T>A;(p.Y1148*)

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:

A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

Cancer Genetics And Cytogenetics
Howe, James R JR; Chinnathambi, Sathivel S; Calva, Daniel D; Bair, Jennifer J; Pechman, Brenda B; Salamon, Agnes A; Tam, Beatrix B; Simon, László L
Publication Date: 2008-02

Variant appearance in text: ATM: Y1148X
PubMed Link: 18262054
Variant Present in the following documents:
  • Main text
View BVdb publication page