Variant (rsID / SNP)

rs141832130

rs141832130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP3B1. Location: chromosome 5, position 77,473,181. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AP3B1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:77473181
Cytoband: 5q14.1
HGVS: NM_003664.5(AP3B1):c.1022G>A (p.Arg341His)
Allele change: Missense_R292H

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.