WDR43 c.1920T>A ;(p.D640E)

Variant ID: 2-29169531-T-A

NM_015131.1(WDR43):c.1920T>A;(p.D640E)

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:

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Orphanet Journal Of Rare Diseases
Chow, Yock-Ping YP; Abdul Murad, Nor Azian NA; Mohd Rani, Zamzureena Z; Khoo, Jia-Shiun JS; Chong, Pei-Sin PS; Wu, Loo-Ling LL; Jamal, Rahman R
Publication Date: 2017-02-21

Variant appearance in text: WDR43: D640E
PubMed Link: 28222800
Variant Present in the following documents:
  • 13023_2017_575_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page