List of variants in gene PLEKHG5 studied for Distal spinal muscular atrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.2249+4C>T	rs751575330	0.00001
NM_020631.5(PLEKHG5):c.1376_1379delGCGG	rs45542640
NM_020631.5(PLEKHG5):c.*750delC	rs886046493
NM_020631.5(PLEKHG5):c.*751delT	rs372197062
NM_020631.5(PLEKHG5):c.*978dup	rs553519753
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu)	rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)	rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)	rs113541584
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del)	rs536097668

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.