WNK4 c.628_630delinsTTT ;(p.L210F)

Variant ID: 17-40934785-CTG-TTT

NM_032387.4(WNK4):c.628_630delinsTTT;(p.L210F)

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:

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: WNK4: Leu210Phe
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page