Variant (rsID / SNP)

rs77597168

rs77597168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS4. Location: chromosome 22, position 26,861,514. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HPS4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:26861514
Cytoband: 22q12.1
HGVS: NM_022081.6(HPS4):c.710C>T (p.Ala237Val)
Allele change: Missense_A237V

Associated conditions / phenotypes

Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 4

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.