KCNJ1 c.305G>T ;(p.C102F)

Variant ID: 11-128709834-C-A

NM_153766.2(KCNJ1):c.305G>T;(p.C102F)

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:

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.

International Journal Of Molecular Sciences
Gianesello, Lisa L; Ceol, Monica M; Bertoldi, Loris L; Terrin, Liliana L; Priante, Giovanna G; Murer, Luisa L; Peruzzi, Licia L; Giordano, Mario M; Paglialonga, Fabio F; Cantaluppi, Vincenzo V; Musetti, Claudio C; Valle, Giorgio G; Del Prete, Dorella D; Anglani, Franca F; Network, Dent Disease Italian DDI
Publication Date: 2020-01-14

Variant appearance in text: KCNJ1: Cys102Phe
PubMed Link: 31947599
Variant Present in the following documents:
  • ijms-21-00516-s001.pdf
View BVdb publication page