List of variants in gene PCCA reported by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.819+9A>G	rs372739944	0.00004
NM_000282.4(PCCA):c.2119-9A>G	rs1389933015	0.00001
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)	rs1555411216
NM_000282.4(PCCA):c.1284+2dup	rs776978090
NM_000282.4(PCCA):c.1353+5_1353+9del	rs764045674
NM_000282.4(PCCA):c.1643+1_1643+2dup	rs1555425626
NM_000282.4(PCCA):c.183+4_183+7del	rs1555342581
NM_000282.4(PCCA):c.1899+2_1899+3insCT	rs2081058900
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)	rs369982920
NM_000282.4(PCCA):c.468+1G>A	rs766139678
NM_000282.4(PCCA):c.717-2A>G	rs2062611307

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.