UPB1 c.250C>T ;(p.P84S)

Variant ID: 22-24896220-C-T

NM_016327.2(UPB1):c.250C>T;(p.P84S)

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: UPB1: 250C>T; P84S
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 3
View BVdb publication page