MYL2 c.402+6G>C

Variant ID: 12-111350894-C-G

NM_000432.3(MYL2):c.402+6G>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Pflugers Archiv : European Journal Of Physiology
Yadav, Sunil S; Sitbon, Yoel H YH; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D
Publication Date: 2019-05

Variant appearance in text: MYL2: 402+6G>C
PubMed Link: 30706179
Variant Present in the following documents:
  • Main text
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: MYL2: 402+6G>C
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page