KCNH2 c.859G>A ;(p.D287N)

Variant ID: 7-150655204-C-T

NM_000238.3(KCNH2):c.859G>A;(p.D287N)

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:

Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).

Heartrhythm Case Reports
Rothenberg, Ina I; Piccini, Ilaria I; Wrobel, Eva E; Stallmeyer, Birgit B; Müller, Jovanca J; Greber, Boris B; Strutz-Seebohm, Nathalie N; Schulze-Bahr, Eric E; Schmitt, Nicole N; Seebohm, Guiscard G
Publication Date: 2016-11

Variant appearance in text: KCNH2: 859G>A
PubMed Link: 28491751
Variant Present in the following documents:
  • Main text
View BVdb publication page