| Geno
|
Mag
|
Summary
|
| (A;A)
|
3
|
|
| (A;G)
|
5
|
Familial Hypercholesterolemia
|
| (G;G)
|
0
|
common in complete genomics
|
| (G;T)
|
5
|
Familial Hypercholesterolemia
|
aka c.2000G>A, p.Cys667Tyr or C667Y; also known as FH French Canadian 2; note that c.2000G>T (p.Cys667Phe or C667F) is an alternate allele, and it is also considered pathogenic in ClinVar
Both are reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
[PMID 11668627] Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
[PMID 12406975] Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
[PMID 15241806] Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
[PMID 17426749] Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.
[PMID 19318025] Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
