rs140789717
This variant is located in the MYH11 gene.
▶ClinVar annotation
Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aortic dissection
View on ClinVar →About MYH11
The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]
View all MYH11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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