HPS6 Chromosome 10
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
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What This Gene Does
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 2
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000166189
Associated Conditions (4)
Hermansky-Pudlak syndrome 6
Inborn genetic diseases
HPS6-related disorder
Hermansky-Pudlak syndrome
Key Variants
RS139161525
Conflicting classifications of pathogenicity
Health Risk
RS139517839
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS139679441
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS144257610
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Inborn genetic diseases, Hermansky-Pudlak syndrome 6
Health Risk
RS144777687
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS145571940
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149692177
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS185571437
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6
Health Risk
RS199518658
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS200681093
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6
Health Risk
RS281865108
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6
Health Risk
RS369112226
Conflicting classifications of pathogenicity
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540987497 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS281865112 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS753804000 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS756471925 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, HPS6-related disorder, Hermansky-Pudlak syndrome |
| RS764867254 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |