RS116840795 CAV3

Health Risk Chr 3:8745579 snv missense variant
Upload your DNA to see your genotype for this variant.
What This Variant Does
"A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. [OMIM:?]
Associated Conditions
Long QT syndrome
Cardiomyopathy
Cardiovascular phenotype
Long QT syndrome
Cardiomyopathy
Cardiovascular phenotype
Population Frequencies
gnomAD ALL
0%
Other Variants in CAV3
rs116840805 rs199476331 rs116840776 rs116840782 rs116840789 rs116840773 rs116840778 rs28936686 rs1008642 rs104893713
Ask Dr. Hemsworth about this variant