Variant (rsID / SNP)

rs139161525

rs139161525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS6. Location: chromosome 10, position 103,827,481. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HPS6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:103827481
Cytoband: 10q24.32
HGVS: NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
Allele change: Synonymous_S750S

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.