AKAP13 c.1031G>A ;(p.G344E)

Variant ID: 15-86122330-G-A

NM_007200.4(AKAP13):c.1031G>A;(p.G344E)

This variant was identified in 2 publications

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: AKAP13: 1031G>A; G344E; rs116715824
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 2
  • Table1.xls, sheet 1
  • Table1.xls, sheet 3
View BVdb publication page