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HR c.118C>A ;(p.P40T)
Variant ID: 8-21986566-G-T
NM_005144.4(
HR
):c.118C>A;(p.P40T)
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:
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.
Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017
Variant appearance in text: HR: 118C>A
PubMed Link:
28590501
Variant Present in the following documents:
1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page
Human T-lymphotropic type 1 virus p30 inhibits homologous recombination and favors unfaithful DNA repair.
Blood
Baydoun, Hicham H HH; Pancewicz, Joanna J; Nicot, Christophe C
Publication Date: 2011-06-02
Variant appearance in text: HR: P40T
PubMed Link:
21427292
Variant Present in the following documents:
Main text
View BVdb publication page