Variant (rsID / SNP)

rs148023800

rs148023800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP3B1. Location: chromosome 5, position 77,425,034. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AP3B1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:77425034
Cytoband: 5q14.1
HGVS: NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu)
Allele change: Missense_P534L

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.