Variant (rsID / SNP)

rs137852541

rs137852541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPS1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRPS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_002764.4(PRPS1):c.547G>C (p.Asp183His)
Allele change: Silent

Associated conditions / phenotypes

Phosphoribosylpyrophosphate synthetase superactivity

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.