Variant (rsID / SNP)

rs80338732

rs80338732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPS1. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PRPS1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease X-linked recessive 5|Charcot-Marie-Tooth Neuropathy X

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.