List of variants in gene PPIL1 studied for Pontocerebellar hypoplasia, type 14

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_016059.5(PPIL1):c.316G>A (p.Asp106Asn)	rs939738054	0.00018
NM_016059.5(PPIL1):c.280+1G>A	rs374639625	0.00002
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter)	rs1774516234	0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)	rs553128312	0.00001
NM_016059.5(PPIL1):c.277A>C (p.Thr93Pro)
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr)	rs199818754
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala)	rs1583103432
NM_016059.5(PPIL1):c.349G>A (p.Ala117Thr)
NM_016059.5(PPIL1):c.350C>A (p.Ala117Asp)

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.