LRP1B Chromosome 2
LDL receptor related protein 1B
Upload your DNA to see your personal genotypes for variants in LRP1B.
What This Gene Does
This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
2q22.1-q22.2
Ensembl
ENSG00000168702
Associated Conditions (2)
LRP1B-related disorder
Inborn genetic diseases
Key Variants
RS138996626
Conflicting classifications of pathogenicity
LRP1B-related disorder, LRP1B-related disorder
Health Risk
RS142683349
Conflicting classifications of pathogenicity
Health Risk
RS144347127
Conflicting classifications of pathogenicity
Health Risk
RS529890891
Conflicting classifications of pathogenicity
Health Risk
RS139661019
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2105154353
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2105187668
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2105222752
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2105223358
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2467426571
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138996626 | Health Risk | Conflicting classifications of pathogenicity | LRP1B-related disorder, LRP1B-related disorder |
| RS142683349 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144347127 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS529890891 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139661019 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2105154353 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2105187668 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2105222752 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2105223358 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2467426571 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |