Variant (rsID / SNP)

rs121908316

rs121908316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS3. Location: chromosome 3, position 148,868,411. Clinical significance in the table: Pathogenic.

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Reference-table entries

HPS3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:148868411
Cytoband: 3q24
HGVS: NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)
Allele change: Missense_R232W

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome

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.