ACHE c.1118G>T ;(p.G373V)

Variant ID: 7-100490390-C-A

NM_000665.3(ACHE):c.1118G>T;(p.G373V)

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:

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Blood Advances
Jadhao, Sudhir S; Davison, Candice C; Roulis, Eileen V EV; Lee, Simon S; Lacaze, Paul P; Riaz, Moeen M; McNeil, John J JJ; Thomas, David M DM; Pecheniuk, Natalie M NM; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-08-09

Variant appearance in text: ACHE: G373V
PubMed Link: 35420653
Variant Present in the following documents:
  • mmc1.xlsx, sheet 6
View BVdb publication page