Variant (rsID / SNP)

rs78336249

rs78336249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS3, CP. Location: chromosome 3, position 148,880,043. Clinical significance in the table: Benign.

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Reference-table entries

HPS3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:148880043
Cytoband: 3q24
HGVS: NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)
Allele change: Missense_G574R

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.