SCN5A c.3263C>T ;(p.P1088L)

Variant ID: 3-38620949-G-A

NM_000335.4(SCN5A):c.3263C>T;(p.P1088L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Disease Markers
Thongnak, Chuphong C; Limprasert, Pornprot P; Tangviriyapaiboon, Duangkamol D; Silvilairat, Suchaya S; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Sukasem, Chonlaphat C; Chantratita, Wasun W
Publication Date: 2016

Variant appearance in text: SCN5A: 3263C>T
PubMed Link: 28018021
Variant Present in the following documents:
  • Main text
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