PC c.1123C>G ;(p.Q375E)

Variant ID: 11-66633720-G-C

NM_001040716.1(PC):c.1123C>G;(p.Q375E)

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:

Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.

Communications Biology
Koshiba, Seizo S; Motoike, Ikuko N IN; Saigusa, Daisuke D; Inoue, Jin J; Aoki, Yuichi Y; Tadaka, Shu S; Shirota, Matsuyuki M; Katsuoka, Fumiki F; Tamiya, Gen G; Minegishi, Naoko N; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M
Publication Date: 2020-11-11

Variant appearance in text: PC: Q375E
PubMed Link: 33177615
Variant Present in the following documents:
  • 42003_2020_Article_1383.pdf
View BVdb publication page