HPS1 Chromosome 10
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
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What This Gene Does
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"Biogenesis of lysosomal organelles complex 3 |MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000107521
Associated Conditions (8)
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome
HPS1-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Hermansky-Pudlak syndrome with pulmonary fibrosis
Key Variants
RS115265574
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
Health Risk
RS11592273
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
Health Risk
RS138771756
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
Health Risk
RS139061260
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, HPS1-related disorder, Hermansky-Pudlak syndrome 1
Health Risk
RS142347792
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder
Health Risk
RS142893758
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
Health Risk
RS142934882
Conflicting classifications of pathogenicity
HPS1-related disorder, Inborn genetic diseases, Hermansky-Pudlak syndrome 1
Health Risk
RS143323128
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Inborn genetic diseases, Hermansky-Pudlak syndrome 1
Health Risk
RS143522382
Conflicting classifications of pathogenicity
Inborn genetic diseases, HPS1-related disorder, Inborn genetic diseases
Health Risk
RS145042327
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
Health Risk
RS1450496925
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
Health Risk
RS145327298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (211)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115265574 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS11592273 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS138771756 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS139061260 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, HPS1-related disorder, Hermansky-Pudlak syndrome 1 |
| RS142347792 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder |
| RS142893758 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS142934882 | Health Risk | Conflicting classifications of pathogenicity | HPS1-related disorder, Inborn genetic diseases, Hermansky-Pudlak syndrome 1 |
| RS143323128 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Inborn genetic diseases, Hermansky-Pudlak syndrome 1 |
| RS143522382 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HPS1-related disorder, Inborn genetic diseases |
| RS145042327 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1450496925 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS145327298 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147125175 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Inborn genetic diseases, Hermansky-Pudlak syndrome 1 |
| RS147269809 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS147748659 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Inborn genetic diseases |
| RS148225281 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, HPS1-related disorder, Hermansky-Pudlak syndrome 1 |
| RS148978269 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, HPS1-related disorder |
| RS149759513 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS150444975 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS150740880 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1554892764 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, HPS1-related disorder, Hermansky-Pudlak syndrome 1 |
| RS1591093208 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS17109853 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, HPS1-related disorder, Hermansky-Pudlak syndrome |
| RS188320187 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS200004304 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS201076763 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Inborn genetic diseases |
| RS201257594 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201728087 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS202101152 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS202103570 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Inborn genetic diseases, Hermansky-Pudlak syndrome 1 |
| RS367656088 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, HPS1-related disorder |
| RS369429846 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371181203 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371779884 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Thyroid cancer, nonmedullary |
| RS372404024 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS376557022 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS3830014 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Inborn genetic diseases |
| RS531947687 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS538482143 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Inborn genetic diseases |
| RS548033666 | Health Risk | Conflicting classifications of pathogenicity | HPS1-related disorder, Inborn genetic diseases, HPS1-related disorder |
| RS560336269 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS566411892 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS569192835 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, HPS1-related disorder, Hermansky-Pudlak syndrome |
| RS61873899 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746827841 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752892771 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS760508807 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS764612179 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder |
| RS765362355 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS765995574 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |