List of variants in gene PRPS1 reported as pathogenic for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp)	rs80338731
NM_002764.3(PRPS1):c.343A>G (p.Met115Val)	rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly)	rs587777150
NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro)	rs869025594
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe)	rs587781263

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.