RAPH1 c.1075C>T ;(p.L359F)

Variant ID: 2-204324647-G-A

NM_213589.1(RAPH1):c.1075C>T;(p.L359F)

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: RAPH1: 1075C>T; L359F
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 1
  • Table1.xls, sheet 3
View BVdb publication page