COA6-AS1

COA6 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:234372802-234373857

Links

ENSG00000231663 ∙ NCBI:101927765 ∙ ∙ HGNC:40825 ∙ ∙ ∙ 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 COA6-AS1 gene.

• not provided (5 variants)
• not specified (4 variants)
• Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COA6-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)					1	1
splice region						0
non coding			1	4	2	7
Total	0	0	1	4	3

Variants in COA6-AS1

This is a list of pathogenic ClinVar variants found in the COA6-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
1-234373106-T-A			Likely benign (Jun 14, 2018)
1-234373210-A-C			Benign (Jun 14, 2018)
1-234373456-A-G			Likely benign (Jun 21, 2018)
1-234373505-C-A			Likely benign (Feb 01, 2024)
1-234373511-G-A		COA6-related disorder	Likely benign (Mar 09, 2020)
1-234373513-G-C		not specified • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Benign (Jul 22, 2021)
1-234373513-G-T			Uncertain significance (Sep 01, 2023)
1-234373538-T-C		not specified	Likely benign (Feb 08, 2018)
1-234373556-G-A		not specified	Likely benign (May 01, 2022)
1-234373657-C-G		not specified • COA6-related disorder	Benign (Nov 22, 2017)
1-234373707-C-T		not specified	Likely benign (Jul 05, 2017)
1-234373726-C-T		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
1-234373728-G-A		Inborn genetic diseases	Uncertain significance (Aug 08, 2022)
1-234373744-C-T			Uncertain significance (Apr 22, 2022)
1-234373748-G-T			Likely benign (May 23, 2023)
1-234373754-C-A		not specified	Likely benign (Oct 14, 2023)
1-234373792-G-T		Inborn genetic diseases	Uncertain significance (Jun 26, 2024)
1-234373822-C-G			Benign (Jan 23, 2024)
1-234373832-A-G		not specified	Likely benign (Jun 21, 2022)
1-234373840-G-A		not specified • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Benign/Likely benign (Dec 22, 2023)
1-234373841-G-A		See cases	Likely pathogenic (Nov 13, 2020)
1-234373854-C-T			Likely benign (Nov 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP