KCNQ1 c.387-5T>A

Variant ID: 11-2549153-T-A

NM_000218.2(KCNQ1):c.387-5T>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

Molecular Genetics & Genomic Medicine
Bdier, Amnah Y AY; Al-Ghamdi, Saleh S; Verma, Prashant K PK; Dagriri, Khalid K; Alshehri, Bandar B; Jiman, Omamah A OA; Ahmed, Sherif E SE; Wilde, Arthur A M AAM; Bhuiyan, Zahurul A ZA; Al-Aama, Jumana Y JY
Publication Date: 2017-09

Variant appearance in text: rs794728549
PubMed Link: 28944242
Variant Present in the following documents:
  • Main text
  • MGG3-5-592.pdf
View BVdb publication page