List of variants in gene PIGA reported as pathogenic for developmental and epileptic encephalopathy

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002641.4(PIGA):c.1028del (p.Asn343fs)
NM_002641.4(PIGA):c.1030_1032del (p.Leu344del)	rs587777399
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	rs387906726
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)	rs2147714706
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn)	rs1921817809
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu)	rs587777398
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)	rs1569180071
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu)	rs587777400
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe)	rs201119959
NM_002641.4(PIGA):c.76dup (p.Tyr26fs)	rs587777397
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)	rs1057524256

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.