AP3B1 Chromosome 5

Adaptor related protein complex 3 subunit beta 1
91 variants 91 Health Risk

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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 part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3"
Locus Type
gene with protein product
Location
5q14.1
Ensembl
ENSG00000132842
Associated Conditions (12)
Hermansky-Pudlak syndrome 2
Autoinflammatory syndrome
Hermansky-Pudlak syndrome
AP3B1-related disorder
Inborn genetic diseases
Familial cancer of breast
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Hepatocellular carcinoma
Combined immunodeficiency
Key Variants
RS112652327
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS113301033
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS115747826
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS139968311
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome
Health Risk
RS142025324
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, AP3B1-related disorder
Health Risk
RS142938290
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
Health Risk
RS143589037
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
Health Risk
RS145351589
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Inborn genetic diseases, Hermansky-Pudlak syndrome 2
Health Risk
RS145787996
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS146871001
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Familial cancer of breast, Clear cell carcinoma of kidney
Health Risk
RS149263390
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
Health Risk
RS150000996
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, AP3B1-related disorder
Health Risk
All Variants (91)
RSID Category Clinical Significance Conditions
RS112652327 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
RS113301033 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
RS115747826 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
RS139968311 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome
RS142025324 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, AP3B1-related disorder
RS142938290 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
RS143589037 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS145351589 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Inborn genetic diseases, Hermansky-Pudlak syndrome 2
RS145787996 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
RS146871001 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Familial cancer of breast, Clear cell carcinoma of kidney
RS149263390 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
RS150000996 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, AP3B1-related disorder
RS191850940 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS199599147 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS201179527 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Combined immunodeficiency
RS201238945 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
RS201936976 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Inborn genetic diseases, Hermansky-Pudlak syndrome 2
RS34089426 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS35976098 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, AP3B1-related disorder
RS367648410 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
RS372285421 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS376978572 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS747459337 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS750377910 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS751674819 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS759174401 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS764100439 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS766116144 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS772186737 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS773657171 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS774196917 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS779511911 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS11739510 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1273775731 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1274082365 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1279032783 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1357739151 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1743583345 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1746249107 Health Risk Likely pathogenic AP3B1-related disorder, AP3B1-related disorder
RS1748378605 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1753137715 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112300864 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112357253 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2478709601 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2478717105 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2478843558 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530803668 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530933851 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530953333 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530953573 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
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