KCNQ1 c.697C>A ;(p.L233M)

Variant ID: 11-2593256-C-A

NM_000218.2(KCNQ1):c.697C>A;(p.L233M)

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:

Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.

International Journal Of Molecular Sciences
Noureldin, Mahmoud M; Chen, Honghong H; Bai, Donglin D
Publication Date: 2018-03-25

Variant appearance in text: KCNQ1: L233M
PubMed Link: 29587382
Variant Present in the following documents:
  • Main text
  • ijms-19-00977.pdf
View BVdb publication page