Variant (rsID / SNP)

rs142182789

rs142182789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS1. Location: chromosome 10, position 27,012,811. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDSS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:27012811
Cytoband: 10p12.1
HGVS: NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys)
Allele change: Missense_S229C

Associated conditions / phenotypes

Deafness-encephaloneuropathy-obesity-valvulopathy 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.