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.




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