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Variant (rsID / SNP)

rs146503597

AP3B1

rs146503597 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP3B1. Location: chromosome 5, position 77,311,370. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AP3B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:77311370
Cytoband
5q14.1
HGVS
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
Allele change
Missense_V950M

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.