AKAP9 c.10560A>T ;(p.Q3520H)

Variant ID: 7-91727061-A-T

NM_005751.4(AKAP9):c.10560A>T;(p.Q3520H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Clinical Genetics
Abou Ziki, M D MD; Seidelmann, S B SB; Smith, E E; Atteya, G G; Jiang, Y Y; Fernandes, R G RG; Marieb, M A MA; Akar, J G JG; Mani, A A
Publication Date: 2018-04

Variant appearance in text: AKAP9: Q3520H
PubMed Link: 28407228
Variant Present in the following documents:
  • Main text
View BVdb publication page