BLOC1S3 Chromosome 19
Biogenesis of lysosomal organelles complex 1 subunit 3
Upload your DNA to see your personal genotypes for variants in BLOC1S3.
What This Gene Does
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 1 subunits
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000189114
Associated Conditions (3)
Inborn genetic diseases
BLOC1S3-related disorder
Hermansky-Pudlak syndrome 8
Key Variants
RS145609489
Conflicting classifications of pathogenicity
Health Risk
RS148910210
Conflicting classifications of pathogenicity
Inborn genetic diseases, BLOC1S3-related disorder, Inborn genetic diseases
Health Risk
RS201502372
Conflicting classifications of pathogenicity
BLOC1S3-related disorder, Inborn genetic diseases, BLOC1S3-related disorder
Health Risk
RS370018943
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hermansky-Pudlak syndrome 8, Inborn genetic diseases
Health Risk
RS749030472
Conflicting classifications of pathogenicity
BLOC1S3-related disorder, BLOC1S3-related disorder
Health Risk
RS1568469902
Pathogenic
Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
Health Risk
RS1969482515
Pathogenic
Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
Health Risk
RS281865115
Pathogenic
Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
Health Risk
RS281865116
Pathogenic
Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
Health Risk
RS754841982
Pathogenic
Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145609489 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148910210 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, BLOC1S3-related disorder, Inborn genetic diseases |
| RS201502372 | Health Risk | Conflicting classifications of pathogenicity | BLOC1S3-related disorder, Inborn genetic diseases, BLOC1S3-related disorder |
| RS370018943 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hermansky-Pudlak syndrome 8, Inborn genetic diseases |
| RS749030472 | Health Risk | Conflicting classifications of pathogenicity | BLOC1S3-related disorder, BLOC1S3-related disorder |
| RS1568469902 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8 |
| RS1969482515 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8 |
| RS281865115 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8 |
| RS281865116 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8 |
| RS754841982 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8 |