RS387906305 LDLR

Health Risk Chr 19:11105586
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What This Variant Does
"aka c.680_681delAC or p.Asp227Glyfs reported in ClinVar as pathogenic for familial hypercholesterole...
Associated Conditions
Hypercholesterolemia
familial
1
Homozygous familial hypercholesterolemia
Familial hypercholesterolemia
Cardiovascular phenotype
Hypercholesterolemia
familial
1
Homozygous familial hypercholesterolemia
Familial hypercholesterolemia
Cardiovascular phenotype
Other Variants in LDLR
rs121908024 rs121908025 rs121908026 rs28942082 rs28942083 rs121908028 rs121908029 rs121908030 rs28942078 rs28942079
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