MYH7 c.3535G>A ;(p.E1179K)

Variant ID: 14-23889245-C-T

NM_000257.2(MYH7):c.3535G>A;(p.E1179K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: MYH7: E1179K
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s008.xlsx, sheet 1
View BVdb publication page



Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

Bmc Medical Genetics
Rodríguez-García, María Isabel MI; Monserrat, Lorenzo L; Ortiz, Martín M; Fernández, Xusto X; Cazón, Laura L; Núñez, Lucía L; Barriales-Villa, Roberto R; Maneiro, Emilia E; Veira, Elena E; Castro-Beiras, Alfonso A; Hermida-Prieto, Manuel M
Publication Date: 2010-04-30

Variant appearance in text: MYH7: E1179K
PubMed Link: 20433692
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-67.pdf
View BVdb publication page