MYH7 c.2701G>C ;(p.A901P)

Variant ID: 14-23893337-C-G

NM_000257.2(MYH7):c.2701G>C;(p.A901P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report.

European Heart Journal. Case Reports
Dolader, Paola P; Field, Ella E; Sarkozy, Anna A; Kaski, Juan Pablo JP
Publication Date: 2019-09

Variant appearance in text: MYH7: 2701G>C; Ala901Pro
PubMed Link: 31660490
Variant Present in the following documents:
  • Main text
  • ytz117.pdf
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: Ala901Pro
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page