Variant (rsID / SNP)

rs121908905

rs121908905 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP3B1. Location: chromosome 5, position 77,477,369. Clinical significance in the table: Pathogenic.

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Reference-table entries

AP3B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:77477369
Cytoband: 5q14.1
HGVS: NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter)
Allele change: Nonsense_R253X

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.