Variant (rsID / SNP)

rs121908952

rs121908952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAPSS2. Location: chromosome 10, position 89,487,160. Clinical significance in the table: Pathogenic.

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Reference-table entries

PAPSS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:89487160
Cytoband: 10q23.31
HGVS: NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)
Allele change: Nonsense_R329X

Associated conditions / phenotypes

Spondyloepimetaphyseal dysplasia, PAPSS2 type|Autosomal recessive brachyolmia

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.