Variant (rsID / SNP)
rs75248449
rs75248449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP3B1. Location: chromosome 5, position 77,458,689. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AP3B1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:77458689
- Cytoband
- 5q14.1
- HGVS
- NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
- Allele change
- Synonymous_T390T
Associated conditions / phenotypes
Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 2|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.