Variant (rsID / SNP)

rs80338730

rs80338730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPS1. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRPS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_002764.4(PRPS1):c.447G>A (p.Pro149=)
Allele change: Silent

Associated conditions / phenotypes

Arts syndrome|Phosphoribosylpyrophosphate synthetase superactivity|Hearing loss, X-linked 1|Charcot-Marie-Tooth Neuropathy X|History of neurodevelopmental disorder

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.