Variant (rsID / SNP)

rs77826284

rs77826284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS1. Location: chromosome 10, position 26,998,637. Clinical significance in the table: Benign.

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Reference-table entries

PDSS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:26998637
Cytoband: 10p12.1
HGVS: NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys)
Allele change: Missense_F136C

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.