SCN5A c.1502A>C ;(p.D501A)

Variant ID: 3-38646236-T-G

NM_000335.4(SCN5A):c.1502A>C;(p.D501A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

The Journal Of General Physiology
Eldstrom, Jodene J; Xu, Hongjian H; Werry, Daniel D; Kang, Congbao C; Loewen, Matthew E ME; Degenhardt, Amanda A; Sanatani, Shubhayan S; Tibbits, Glen F GF; Sanders, Charles C; Fedida, David D
Publication Date: 2010-05

Variant appearance in text: SCN5A: D501A
PubMed Link: 20421371
Variant Present in the following documents:
  • Main text
  • JGP_200910351.pdf
View BVdb publication page