SCN5A c.2332del ;(p.Q778Nfs*24)

Variant ID: 3-38628994-TG-T

NM_000335.4(SCN5A):c.2332del;(p.Q778Nfs*24)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

Human Mutation
Hawley, Megan H MH; Almontashiri, Naif N; Biesecker, Leslie G LG; Berger, Natalie N; Chung, Wendy K WK; Garcia, John J; Grebe, Theresa A TA; Kelly, Melissa A MA; Lebo, Matthew S MS; Macaya, Daniela D; Mei, Hui H; Platt, Julia J; Richard, Gabi G; Ryan, Ashley A; Thomson, Kate L KL; Vatta, Matteo M; Walsh, Roddy R; Ware, James S JS; Wheeler, Matthew M; Zouk, Hana H; Mason-Suares, Heather H; Funke, Birgit B
Publication Date: 2020-09

Variant appearance in text: SCN5A: 2331del
PubMed Link: 32516855
Variant Present in the following documents:
  • Main text
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