KCNH5 c.1616A>C ;(p.H539P)

Variant ID: 14-63269253-T-G

NM_139318.4(KCNH5):c.1616A>C;(p.H539P)

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:

Frequent somatic mosaicism in T lymphocyte subsets in individuals with and without multiple sclerosis.

Frontiers In Immunology
Van Horebeek, Lies L; Dedoncker, Nina N; Dubois, Bénédicte B; Goris, An A
Publication Date: 2022

Variant appearance in text: KCNH5: H539P
PubMed Link: 36618380
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 4
View BVdb publication page