List of variants reported as likely pathogenic for Spinocerebellar ataxia type 14 by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)	rs749266717	0.00004
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)	rs770016586	0.00002
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)	rs386134172
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)	rs1599938631
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)	rs2122988567
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)	rs121918515
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)	rs1304701232

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.