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ATM c.*1427T>C
Variant ID: 11-108237662-T-C
NM_000051.3(
ATM
):c.*1427T>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs3092836
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.
Journal Of Breast Cancer
Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW
Publication Date: 2018-06
Variant appearance in text: rs3092836
PubMed Link:
29963112
Variant Present in the following documents:
Main text
jbc-21-165.pdf
View BVdb publication page
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
Plos One
George Priya Doss, C C; Rajith, B B
Publication Date: 2012
Variant appearance in text: rs3092836
PubMed Link:
22529920
Variant Present in the following documents:
Main text
pone.0034573.pdf
View BVdb publication page