KCNH5 c.400T>C ;(p.F134L)

Variant ID: 14-63468082-A-G

NM_139318.4(KCNH5):c.400T>C;(p.F134L)

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:

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: KCNH5: Phe134Leu
PubMed Link: 33262484
Variant Present in the following documents:
  • Main text
View BVdb publication page