SLC12A3 c.2083G>A ;(p.G695R)

Variant ID: 16-56920910-G-A

NM_001126108.1(SLC12A3):c.2083G>A;(p.G695R)

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:

Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.

Frontiers In Genetics
Abramovs, Nikita N; Brass, Andrew A; Tassabehji, May M
Publication Date: 2020

Variant appearance in text: SLC12A3: 2083G>A; Gly695Arg; rs36031476
PubMed Link: 32231685
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 1
View BVdb publication page