SCN5A c.3222C>G ;(p.S1074R)

Variant ID: 3-38622428-G-C

NM_000335.4(SCN5A):c.3222C>G;(p.S1074R)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genotype-phenotype correlation in long QT syndrome families.

Indian Pacing And Electrophysiology Journal
Qureshi, Sameera Fatima SF; Ali, Altaf A; Venkateshwari, Ananthapur A; Rao, Hygriv H; Jayakrishnan, M P MP; Narasimhan, Calambur C; Shenthar, Jayaprakash J; Thangaraj, Kumarasamy K; Nallari, Pratibha P
Publication Date: 2015

Variant appearance in text: SCN5A: S1074R
PubMed Link: 27479201
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Mutational analysis of SCN5A gene in long QT syndrome.

Meta Gene
Qureshi, Sameera Fatima SF; Ali, Altaf A; John, Princy P; Jadhav, Amol P AP; Venkateshwari, Ananthapur A; Rao, Hygriv H; Jayakrishnan, M P MP; Narasimhan, Calambur C; Shenthar, Jayaprakash J; Thangaraj, Kumarasamy K; Nallari, Pratibha P
Publication Date: 2015-12

Variant appearance in text: SCN5A: S1074R
PubMed Link: 26401487
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page