SCN5A c.5218dup ;(p.D1740Gfs*48)

Variant ID: 3-38592641-T-TC

NM_000335.4(SCN5A):c.5218dup;(p.D1740Gfs*48)

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:

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes
Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P
Publication Date: 2021-12-22

Variant appearance in text: rs1251085820
PubMed Link: 35052356
Variant Present in the following documents:
  • Main text
  • genes-13-00016.pdf
View BVdb publication page


Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes
Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P
Publication Date: 2021-12-22

Variant appearance in text: rs1251085820
PubMed Link: 35052356
Variant Present in the following documents:
  • Main text
  • genes-13-00016.pdf
View BVdb publication page