RS869025453 LDLR

Health Risk Chr 19:11113652
Upload your DNA to see your genotype for this variant.
What This Variant Does
"aka c.1478_1479delCT or p.Ser493Cysfs reported in ClinVar as pathogenic for familial hypercholestero...
Associated Conditions
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Cardiovascular phenotype
LDLR-related disorder
Dyslipidemia
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Cardiovascular phenotype
LDLR-related disorder
Dyslipidemia
Other Variants in LDLR
rs121908024 rs121908025 rs121908026 rs28942082 rs28942083 rs121908028 rs121908029 rs121908030 rs28942078 rs28942079
Ask Dr. Hemsworth about this variant