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AKAP9 c.1463T>A ;(p.I488K)
Variant ID: 7-91630694-T-A
NM_005751.4(
AKAP9
):c.1463T>A;(p.I488K)
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:
Identification of MYLK3 mutations in familial dilated cardiomyopathy.
Scientific Reports
Tobita, Takashige T; Nomura, Seitaro S; Morita, Hiroyuki H; Ko, Toshiyuki T; Fujita, Takanori T; Toko, Haruhiro H; Uto, Kenta K; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I
Publication Date: 2017-12-13
Variant appearance in text: AKAP9: 1463T>A; I488N
PubMed Link:
29235529
Variant Present in the following documents:
41598_2017_17769_MOESM1_ESM.pdf
View BVdb publication page