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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