OXCT1-AS1

OXCT1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:41868320-41880210

Links

ENSG00000248668 ∙ NCBI:100874002 ∙ ∙ HGNC:40423 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OXCT1-AS1 gene.

• Succinyl-CoA acetoacetate transferase deficiency (15 variants)
• not provided (5 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OXCT1-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			10	3	3	16
Total	0	0	10	3	3

Variants in OXCT1-AS1

This is a list of pathogenic ClinVar variants found in the OXCT1-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-41870264-C-T		Succinyl-CoA acetoacetate transferase deficiency	Likely benign (Oct 17, 2023)
5-41870266-T-TC		Succinyl-CoA acetoacetate transferase deficiency	Benign/Likely benign (Jan 31, 2024)
5-41870269-C-T		Succinyl-CoA acetoacetate transferase deficiency	Likely benign (Jun 06, 2023)
5-41870291-G-A		Inborn genetic diseases	Uncertain significance (Dec 07, 2024)
5-41870295-C-A		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Dec 03, 2019)
5-41870317-G-A		Succinyl-CoA acetoacetate transferase deficiency	Likely benign (Apr 10, 2023)
5-41870320-G-C		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Dec 04, 2019)
5-41870324-C-T			Uncertain significance (Oct 25, 2017)
5-41870343-G-A		Succinyl-CoA acetoacetate transferase deficiency • Inborn genetic diseases	Uncertain significance (Nov 30, 2021)
5-41870353-C-T		Succinyl-CoA acetoacetate transferase deficiency	Likely benign (Sep 17, 2023)
5-41870363-G-C		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Jan 12, 2018)
5-41870412-C-T		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Jan 13, 2018)
5-41870418-G-C		Succinyl-CoA acetoacetate transferase deficiency	Benign (Jan 13, 2018)
5-41870461-C-T		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Jan 12, 2018)
5-41870491-C-T		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Jan 13, 2018)
5-41870495-C-T		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Mar 02, 2018)
5-41870550-C-T		Succinyl-CoA acetoacetate transferase deficiency	Benign (Nov 12, 2018)
5-41870573-T-C		Succinyl-CoA acetoacetate transferase deficiency	Benign (Jun 20, 2021)
5-41870663-C-T		Succinyl-CoA acetoacetate transferase deficiency	Uncertain significance (Jan 12, 2018)
5-41870704-C-T		Succinyl-CoA acetoacetate transferase deficiency	Likely benign (Jun 14, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP