DNAH11 c.10181G>A ;(p.G3394D)

Variant ID: 7-21847516-G-A

NM_001277115.1(DNAH11):c.10181G>A;(p.G3394D)

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: DNAH11: 10181G>A
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 3
  • Table1.xls, sheet 4
View BVdb publication page