Variant (rsID / SNP)

rs180729981

rs180729981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS4. Location: chromosome 22, position 26,868,809. 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: 22:26868809
Cytoband: 22q12.1
HGVS: NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
Allele change: Missense_L125V

Associated conditions / phenotypes

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.