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ATM c.3444T>G ;(p.Y1148*)
Variant ID: 11-108151763-T-G
NM_000051.3(
ATM
):c.3444T>G;(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