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Variant (rsID / SNP)

rs138943074

PAPSS2

rs138943074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAPSS2. Location: chromosome 10, position 89,475,544. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PAPSS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:89475544
Cytoband
10q23.31
HGVS
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp)
Allele change
Missense_G270D

Associated conditions / phenotypes

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.