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SCN5A c.803G>A ;(p.G268D)
Variant ID: 3-38651356-C-T
NM_000335.4(
SCN5A
):c.803G>A;(p.G268D)
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:
Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.
Mediterranean Journal Of Hematology And Infectious Diseases
Zahari, Maimiza M; Sulaiman, Siti Aishah SA; Othman, Zulhabri Z; Ayob, Yasmin Y; Karim, Faraizah Abd FA; Jamal, Rahman R
Publication Date: 2018
Variant appearance in text: HB2: 803G>A
PubMed Link:
30210749
Variant Present in the following documents:
Main text
mjhid-10-1-e2018056.pdf
View BVdb publication page
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).
Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Ning, Li L; Moss, Arthur J AJ; Zareba, Wojciech W; Robinson, Jennifer J; Rosero, Spencer S; Ryan, Dan D; Qi, Ming M
Publication Date: 2003-07
Variant appearance in text: SCN5A: G268D
PubMed Link:
14510661
Variant Present in the following documents:
Main text
View BVdb publication page