Hypercholesterolemia, familial
OMIM:143890Mode of inheritance:Autosomal dominant
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.138C>A |
| A.A. Change | p.Cys46Stop |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Chater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. Clin Chim Acta. 2006 Nov;373(1-2):62-9. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.313+5G>T |
| A.A. Change | |
| Exon/Intron | intron 3 |
| Mutation Type | substitution |
| Reference | Chater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. Clin Chim Acta. 2006 Nov;373(1-2):62-9. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.1736A>C |
| A.A. Change | p.Asp579Ala |
| Exon/Intron | exon 12 |
| Mutation Type | substitution |
| Reference | Chater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. Clin Chim Acta. 2006 Nov;373(1-2):62-9. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.514G>A |
| A.A. Change | p.Asp172Asn |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Chater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. Clin Chim Acta. 2006 Nov;373(1-2):62-9. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.1502C>A |
| A.A. Change | p.Ala501Glu |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Chater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. Clin Chim Acta. 2006 Nov;373(1-2):62-9. |
| Gene Symbol | LDLR |
|---|---|
| DNA Change | Large deletions |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | El Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet. 2003;48(4):199-203. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.400T>C |
| A.A. Change | p.Cys134Arg |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | El Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet. 2003;48(4):199-203. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.859G>T |
| A.A. Change | p.Gly287Cys |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | El Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet. 2003;48(4):199-203. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.1171G>A |
| A.A. Change | p.Ala391Thr |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | El Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet. 2003;48(4):199-203. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.2054G>C |
| A.A. Change | p.Pro664Leu |
| Exon/Intron | exon 14 |
| Mutation Type | substitution |
| Reference | El Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet. 2003;48(4):199-203. |
| Gene Symbol | LDLR |
|---|---|
| Reference transcript | NM_000527.4 |
| DNA Change | c.2132C>T |
| A.A. Change | p.Cys690Ser |
| Exon/Intron | exon 14 |
| Mutation Type | substitution |
| Reference | El Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet. 2003;48(4):199-203. |
Variant not named according to HGVS recommendations