ALDH5A1 c.287G>A ;(p.R96Q)

Variant ID: 6-24495511-G-A

NM_001080.3(ALDH5A1):c.287G>A;(p.R96Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: SSADH: R96Q
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_Article_11959.pdf
View BVdb publication page