Variant (rsID / SNP)

rs7128017

rs7128017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS5. Location: chromosome 11, position 18,319,180. Clinical significance in the table: Benign.

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Reference-table entries

HPS5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:18319180
Cytoband: 11p15.1
HGVS: NM_181507.2(HPS5):c.1249C>A (p.Leu417Met)
Allele change: Missense_L303M

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 5

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.