AKAP9 c.8134G>T ;(p.A2712S)

Variant ID: 7-91711950-G-T

NM_005751.4(AKAP9):c.8134G>T;(p.A2712S)

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:

Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy.

Medicine
Zhang, Xinlin X; Xie, Jun J; Zhu, Suhui S; Chen, Yuhan Y; Wang, Lian L; Xu, Biao B
Publication Date: 2017-06

Variant appearance in text: AKAP9: 8134G>T; Ala2712Ser
PubMed Link: 28614222
Variant Present in the following documents:
  • Main text
  • medi-96-e7010.pdf
View BVdb publication page