Variant (rsID / SNP)

rs45467596

rs45467596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAPSS2. Location: chromosome 10, position 89,487,046. Clinical significance in the table: Benign.

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Reference-table entries

PAPSS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:89487046
Cytoband: 10q23.31
HGVS: NM_001015880.2(PAPSS2):c.886G>A (p.Val296Met)
Allele change: Missense_V291M

Associated conditions / phenotypes

Spondyloepimetaphyseal dysplasia, PAPSS2 type

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.