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 |
|---|---|---|---|
| RS768146409 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS772192145 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS773611107 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS775570414 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS777125097 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS886046591 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS886077189 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS121908385 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS1260083432 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1303126934 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1486224265 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591003183 | Health Risk | Likely pathogenic | — |
| RS1591055649 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591082099 | Health Risk | Likely pathogenic | — |
| RS1591109881 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1844254450 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1845193663 | Health Risk | Likely pathogenic | — |
| RS1845317249 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1846089676 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1846105381 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1938751649 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2136078570 | Health Risk | Likely pathogenic | — |
| RS2136083495 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2136102397 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2136122681 | Health Risk | Likely pathogenic | — |
| RS2136154449 | Health Risk | Likely pathogenic | — |
| RS2136205876 | Health Risk | Likely pathogenic | — |
| RS2538721769 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538722919 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2538760474 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538760501 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538792260 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538792615 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2538809395 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538811120 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538832622 | Health Risk | Likely pathogenic | — |
| RS2538833174 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538834370 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538835331 | Health Risk | Likely pathogenic | — |
| RS2538837238 | Health Risk | Likely pathogenic | — |
| RS2538837526 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538838798 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538839145 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538896065 | Health Risk | Likely pathogenic | — |
| RS2538902394 | Health Risk | Likely pathogenic | — |
| RS2538903245 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538903276 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538903848 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538904841 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538906060 | Health Risk | Likely pathogenic | — |