LDLRAP1 Chromosome 1
Low density lipoprotein receptor adaptor protein 1
Upload your DNA to see your personal genotypes for variants in LDLRAP1.
What This Gene Does
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
Hypercholesterolemia
familial
4
Familial hypercholesterolemia
Cardiovascular phenotype
LDLRAP1-related disorder
Autosomal recessive inheritance
See cases
Key Variants
RS1057515462
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS1057515463
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS1057515534
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS1057515536
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS114583297
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS1215026981
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS121908326
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS139877665
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS140170877
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS141522360
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 4
Health Risk
RS142920998
Conflicting classifications of pathogenicity
Familial hypercholesterolemia, Hypercholesterolemia, familial
Health Risk
RS143563728
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypercholesterolemia, familial
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553170279 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS1557703339 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2043857269 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2043858229 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044137351 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044138456 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044162851 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044164295 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044384127 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044386296 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044402416 | Health Risk | Pathogenic | Autosomal recessive inheritance, Hypercholesterolemia, familial |
| RS2124633546 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2124663461 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2124690250 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2523873396 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2523989528 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2523990411 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2524035532 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2524100144 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2524109142 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS2524111305 | Health Risk | Pathogenic | Cardiovascular phenotype, Familial hypercholesterolemia, Cardiovascular phenotype |
| RS532723373 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS750383461 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS751920586 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS755104973 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS777648532 | Health Risk | Pathogenic | — |
| RS778909774 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS781585299 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 4 |
| RS1201229554 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 4 |
| RS2044223568 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 4 |
| RS2124688583 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 4 |
| RS545662810 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 4 |
| RS758321083 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 4 |
| RS763778803 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 4 |
| RS868193249 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 4 |