List of variants in gene LOC121725203, OXCT1 studied for Succinyl-CoA acetoacetate transferase deficiency

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000436.4(OXCT1):c.1100-14G>C
NM_000436.4(OXCT1):c.1100-18GT[6]
NM_000436.4(OXCT1):c.1100-18GT[8]
NM_000436.4(OXCT1):c.1100-19del
NM_000436.4(OXCT1):c.1100-6G>T
NM_000436.4(OXCT1):c.1115C>T (p.Thr372Ile)	rs2112231295
NM_000436.4(OXCT1):c.1146C>T (p.Ser382=)

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.