SCN5A c.5000T>A ;(p.M1667K)

Variant ID: 3-38592860-A-T

NM_000335.4(SCN5A):c.5000T>A;(p.M1667K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.

International Journal Of Molecular Sciences
Monasky, Michelle M MM; Micaglio, Emanuele E; Ciconte, Giuseppe G; Rivolta, Ilaria I; Borrelli, Valeria V; Ghiroldi, Andrea A; D'Imperio, Sara S; Binda, Anna A; Melgari, Dario D; Benedetti, Sara S; Mitrovic, Predrag P; Anastasia, Luigi L; Mecarocci, Valerio V; Ćalović, Žarko Ž; Casari, Giorgio G; Pappone, Carlo C
Publication Date: 2021-04-29

Variant appearance in text: SCN5A: 5000T>A
PubMed Link: 33946750
Variant Present in the following documents:
  • Main text
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