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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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