IDH3B c.1072-246C>T

Variant ID: 20-2639729-G-A

NM_006899.3(IDH3B):c.1072-246C>T

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:

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022

Variant appearance in text: rs182170393
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 1
View BVdb publication page