HPS1 Chromosome 10
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Upload your DNA to see your personal genotypes for variants in HPS1.
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 |
|---|---|---|---|
| RS2538897333 | Health Risk | Pathogenic | — |
| RS2538898004 | Health Risk | Pathogenic | — |
| RS2538898866 | Health Risk | Pathogenic | — |
| RS2538903505 | Health Risk | Pathogenic | — |
| RS2538904004 | Health Risk | Pathogenic | — |
| RS2538904209 | Health Risk | Pathogenic | — |
| RS2538904613 | Health Risk | Pathogenic | — |
| RS2538919605 | Health Risk | Pathogenic | — |
| RS2538931345 | Health Risk | Pathogenic | — |
| RS2538931559 | Health Risk | Pathogenic | — |
| RS2538934037 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538967043 | Health Risk | Pathogenic | — |
| RS2538994374 | Health Risk | Pathogenic | — |
| RS2539077004 | Health Risk | Pathogenic | — |
| RS2539077107 | Health Risk | Pathogenic | — |
| RS2539078287 | Health Risk | Pathogenic | — |
| RS281865075 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS281865076 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS281865079 | Health Risk | Pathogenic | — |
| RS281865081 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS281865082 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder |
| RS281865086 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS281865163 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Inborn genetic diseases |
| RS538274657 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS747607498 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS748888649 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS748939090 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS756433074 | Health Risk | Pathogenic | — |
| RS786205464 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1040121123 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1239621485 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS1278834481 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1330094451 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS1453977337 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1591031929 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591092841 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1846158787 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2136083690 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, HPS1-related disorder, Hermansky-Pudlak syndrome 1 |
| RS2136197089 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2136327710 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538834658 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538966402 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538968247 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538987319 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS281865077 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS281865080 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 |
| RS281865084 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder |
| RS281865088 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS281865090 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS374689398 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, HPS1-related disorder |