MYH7 c.488A>C ;(p.Q163P)

Variant ID: 14-23901862-T-G

NM_000257.2(MYH7):c.488A>C;(p.Q163P)

This variant was identified in 3 publications

View GRCh38 version.



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

Publications:

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: Q163P
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page


Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: Q163P
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page


Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Plos One
Sicko, Robert J RJ; Browne, Marilyn L ML; Rigler, Shannon L SL; Druschel, Charlotte M CM; Liu, Gang G; Fan, Ruzong R; Romitti, Paul A PA; Caggana, Michele M; Kay, Denise M DM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2016

Variant appearance in text: MYH7: 488A>C; Gln163Pro
PubMed Link: 27788187
Variant Present in the following documents:
  • Main text
  • pone.0165174.pdf
View BVdb publication page


Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Circulation. Cardiovascular Genetics
Bainbridge, Matthew N MN; Davis, Erica E EE; Choi, Wen-Yee WY; Dickson, Amy A; Martinez, Hugo R HR; Wang, Min M; Dinh, Huyen H; Muzny, Donna M DM; Pignatelli, Ricardo R; Katsanis, Nicholas N; Boerwinkle, Eric E; Gibbs, Richard A RA; Jefferies, John L JL
Publication Date: 2015-08

Variant appearance in text: MYH7: Q163P
PubMed Link: 26025024
Variant Present in the following documents:
  • Main text
View BVdb publication page