HPS3 Chromosome 3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
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What This Gene Does
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 2
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000163755
Associated Conditions (6)
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome
HPS3-related disorder
Inborn genetic diseases
Hepatocellular carcinoma
Hermansky-Pudlak syndrome 2
Key Variants
RS113381494
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS1343390851
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS138987987
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, HPS3-related disorder, Hermansky-Pudlak syndrome 3
Health Risk
RS141832148
Conflicting classifications of pathogenicity
HPS3-related disorder, Inborn genetic diseases, HPS3-related disorder
Health Risk
RS141883346
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
Health Risk
RS141916243
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS142027515
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS144099522
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, HPS3-related disorder
Health Risk
RS145158238
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Inborn genetic diseases, Hermansky-Pudlak syndrome
Health Risk
RS148168280
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS150262900
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS1723945036
Conflicting classifications of pathogenicity
HPS3-related disorder, HPS3-related disorder
Health Risk
All Variants (251)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113381494 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder |
| RS1343390851 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS138987987 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, HPS3-related disorder, Hermansky-Pudlak syndrome 3 |
| RS141832148 | Health Risk | Conflicting classifications of pathogenicity | HPS3-related disorder, Inborn genetic diseases, HPS3-related disorder |
| RS141883346 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS141916243 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS142027515 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder |
| RS144099522 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, HPS3-related disorder |
| RS145158238 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Inborn genetic diseases, Hermansky-Pudlak syndrome |
| RS148168280 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder |
| RS150262900 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1723945036 | Health Risk | Conflicting classifications of pathogenicity | HPS3-related disorder, HPS3-related disorder |
| RS200136665 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS367816094 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS371551313 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder |
| RS373037058 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS377368442 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS574234110 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746331416 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS748904322 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Inborn genetic diseases, Hermansky-Pudlak syndrome |
| RS750402363 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS773017257 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS779612018 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 3, Inborn genetic diseases, Hermansky-Pudlak syndrome 3 |
| RS927155737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1173829042 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1245464556 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1280253490 | Health Risk | Likely pathogenic | — |
| RS1282659169 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1286892626 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1288851720 | Health Risk | Likely pathogenic | — |
| RS1309602954 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1312261586 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1349881223 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1476066527 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS1553750097 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1576708708 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS1722335253 | Health Risk | Likely pathogenic | — |
| RS1722728402 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1722737993 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1723042117 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1723933181 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1724515936 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2108129745 | Health Risk | Likely pathogenic | — |
| RS2108147274 | Health Risk | Likely pathogenic | — |
| RS2108152614 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2108170158 | Health Risk | Likely pathogenic | — |
| RS2472688343 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2472688962 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2472689165 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2472689274 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |