Gene entry
AP3B1
adaptor related protein complex 3 subunit beta 1
- Chromosome
- 5
- Cytoband
- 5q14.1
- Variants (rsID)
- 37
AP3B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q14.1). Its official name is “adaptor related protein complex 3 subunit beta 1”. The reference table lists 37 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs139344924Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 2|Autoinflammatory syndrome
- rs144420604Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 2|Autoinflammatory syndrome
- rs146503597Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 2|Autoinflammatory syndrome
- rs75248449Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 2|Autoinflammatory syndrome
- rs121908905Pathogenicsingle nucleotide variantHermansky-Pudlak syndrome 2
- rs141832130Uncertain significancesingle nucleotide variantHermansky-Pudlak syndrome 2
- rs148023800Uncertain significancesingle nucleotide variantHermansky-Pudlak syndrome 2
Other listed variants
- rs252782
- rs2046894
- rs3822645
- rs6873309
- rs7726585
- rs7733511
- rs10042222
- rs12652827
- rs13170700
- rs35106017
- rs62364494
- rs72776411
- rs74895944
- rs75723200
- rs75976265
- rs76666349
- rs77827459
- rs78548382
- rs79004425
- rs114652169
- rs115296324
- rs116563441
- rs117792580
- rs142306843
- rs142727079
- rs145162631
- rs148160411
- rs149248940
- rs149608278
- rs151029662
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.