MYH7 c.1095G>C ;(p.K365N)

Variant ID: 14-23899027-C-G

NM_000257.2(MYH7):c.1095G>C;(p.K365N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs735711
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: MYH7: 1095G>C
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach.

The Journal Of Biological Chemistry
Pinto, Jose Renato JR; Yang, Shi Wei SW; Hitz, Marc-Phillip MP; Parvatiyar, Michelle S MS; Jones, Michelle A MA; Liang, Jingsheng J; Kokta, Victor V; Talajic, Mario M; Tremblay, Nicolas N; Jaeggi, Michelle M; Andelfinger, Gregor G; Potter, James D JD
Publication Date: 2011-06-10

Variant appearance in text: rs735711
PubMed Link: 21502316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

Journal Of Biomolecular Techniques : Jbt
Dames, Shale S; Durtschi, Jacob J; Geiersbach, Katherine K; Stephens, Jack J; Voelkerding, Karl V KV
Publication Date: 2010-07

Variant appearance in text: rs735711
PubMed Link: 20592870
Variant Present in the following documents:
  • Main text
View BVdb publication page