A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat
PMID: 31164718
Gene: MYH7
AnimalModel: detection of feline orthologue of NM_000257.2(MYH7):c.5647G>A (p.Glu1883Lys) (ClinVarID: 14121), which was determined to cause HCM in domestic short hair cat
ClinVar: 14121, https://www.ncbi.nlm.nih.gov/clinvar/variation/14121/
gnomAD: 0.00003185, https://gnomad.broadinstitute.org/variant/14-23883224-C-T