List of variants in gene AP4E1 reported as pathogenic for obsolete AP4-related intellectual disability and spastic paraplegia

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs)	rs2140861877
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)	rs1313275799
NM_007347.5(AP4E1):c.542+5_542+8del	rs2141147450
NM_007347.5(AP4E1):c.942_943+3delinsCC	rs2141164878

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.