Variant (rsID / SNP)

rs116148064

rs116148064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS1. Location: chromosome 10, position 27,031,454. Clinical significance in the table: Likely benign.

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Reference-table entries

PDSS1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:27031454
Cytoband: 10p12.1
HGVS: NM_014317.5(PDSS1):c.1055G>A (p.Arg352Gln)
Allele change: Missense_R352Q

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.