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Variant (rsID / SNP)

rs116424900

PDSS1

rs116424900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS1. Location: chromosome 10, position 27,009,268. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDSS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:27009268
Cytoband
10p12.1
HGVS
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
Allele change
Missense_K197E

Associated conditions / phenotypes

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.