KCNH2 c.1891T>C ;(p.S631P)

Variant ID: 7-150648590-A-G

NM_000238.3(KCNH2):c.1891T>C;(p.S631P)

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:

Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family.

Medicina (Kaunas, Lithuania)
Bileišienė, Neringa N; Barysienė, Jūratė J; Mikštienė, Violeta V; Preikšaitienė, Eglė E; Marinskis, Germanas G; Keževičiūtė, Monika M; Utkus, Algirdas A; Aidietis, Audrius A
Publication Date: 2021-07-16

Variant appearance in text: KCNH2: 1891T>C
PubMed Link: 34357002
Variant Present in the following documents:
  • Main text
  • medicina-57-00721.pdf
View BVdb publication page