Variant (rsID / SNP)

rs34388030

rs34388030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS3. Location: chromosome 3, position 148,858,914. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HPS3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:148858914
Cytoband: 3q24
HGVS: NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)
Allele change: Missense_E110K

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.