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.




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