GOT2 c.337G>T ;(p.A113S)

Variant ID: 16-58756092-C-A

NM_002080.2(GOT2):c.337G>T;(p.A113S)

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:

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Jci Insight
Tang, Clara Sze Man CSM; Mononen, Mimmi M; Lam, Wai-Yee WY; Jin, Sheng Chih SC; Zhuang, Xuehan X; Garcia-Barcelo, Maria-Mercè MM; Lin, Qiongfen Q; Yang, Yujia Y; Sahara, Makoto M; Eroglu, Elif E; Chien, Kenneth R KR; Hong, Haifa H; Tam, Paul Kwong Hang PKH; Gruber, Peter J PJ
Publication Date: 2022-01-25

Variant appearance in text: GOT2: 337G>T; Ala113Ser
PubMed Link: 34905512
Variant Present in the following documents:
  • jciinsight-7-152198-s012.xlsx, sheet 3
View BVdb publication page