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AKAP9 c.6565G>A ;(p.V2189I)
Variant ID: 7-91700276-G-A
NM_005751.4(
AKAP9
):c.6565G>A;(p.V2189I)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Peerj
Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A
Publication Date: 2021
Variant appearance in text: AKAP9: V2189I
PubMed Link:
33552729
Variant Present in the following documents:
peerj-09-10711-s004.xlsx, sheet 1
View BVdb publication page
Ankyrin-B Q1283H Variant Linked to Arrhythmias Via Loss of Local Protein Phosphatase 2A Activity Causes Ryanodine Receptor Hyperphosphorylation.
Circulation
Zhu, Wengen W; Wang, Cen C; Hu, Jinzhu J; Wan, Rong R; Yu, Jianhua J; Xie, Jinyan J; Ma, Jianyong J; Guo, Linjuan L; Ge, Jin J; Qiu, Yumin Y; Chen, Leifeng L; Liu, Hualong H; Yan, Xia X; Liu, Xiuxia X; Ye, Jin J; He, Wenfeng W; Shen, Yang Y; Wang, Chao C; Mohler, Peter J PJ; Hong, Kui K
Publication Date: 2018-12-04
Variant appearance in text: AKAP9: V2189I
PubMed Link:
30571258
Variant Present in the following documents:
Main text
cir-138-2682.pdf
cir-138-2682-s001.pdf
View BVdb publication page