List of variants in gene ACTA2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile)	rs397516684	0.00004
NM_001613.4(ACTA2):c.338A>C (p.Asn113Thr)	rs397516680
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)	rs112602953
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)	rs397516683
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	rs387906592
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)	rs727502878

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.