COQ7-DT

COQ7 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:19062144-19089487

Links

ENSG00000261465 ∙ NCBI:102723385 ∙ ∙ HGNC:55362 ∙ ∙ ∙ 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 COQ7-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COQ7-DT 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					2	2
Total	0	0	0	0	2

Variants in COQ7-DT

This is a list of pathogenic ClinVar variants found in the COQ7-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
16-19067270-TA-T			Benign (Aug 15, 2019)
16-19067308-A-T			Benign (Jun 14, 2018)
16-19067449-T-C			Likely benign (Feb 24, 2019)
16-19067503-G-T			Likely benign (Jul 07, 2018)
16-19067610-G-A			Likely benign (Jul 07, 2018)
16-19067651-T-TTTTAG		COQ7-related disorder	Uncertain significance (Nov 21, 2023)
16-19067665-A-C		Primary coenzyme Q10 deficiency 8	Likely pathogenic (May 06, 2023)
16-19067665-A-G		Neuronopathy, distal hereditary motor, autosomal recessive 9	Pathogenic (Oct 17, 2023)
16-19067667-G-T		Primary coenzyme Q10 deficiency 8 • Neuronopathy, distal hereditary motor, autosomal recessive 9	Conflicting classifications of pathogenicity (Dec 20, 2023)
16-19067672-G-C		not specified	Uncertain significance (May 26, 2024)
16-19067672-G-T			Uncertain significance (Mar 28, 2022)
16-19067673-C-A		Primary coenzyme Q10 deficiency 8	Uncertain significance (Aug 07, 2018)
16-19067673-C-T			Likely benign (Dec 30, 2024)
16-19067675-CCGGGGCGGCGG-C			Uncertain significance (Aug 01, 2023)
16-19067677-G-C		not specified	Likely benign (Nov 29, 2021)
16-19067678-G-T			Uncertain significance (Mar 28, 2022)
16-19067678-GGGC-G			Uncertain significance (Jul 06, 2022)
16-19067678-G-GGGC			Benign (Jan 27, 2025)
16-19067681-C-T		not specified	Uncertain significance (Feb 28, 2023)
16-19067681-CG-AA			Uncertain significance (Mar 29, 2022)
16-19067684-C-G			Uncertain significance (Nov 11, 2024)
16-19067684-C-T			Uncertain significance (Jan 22, 2024)
16-19067684-C-CGGCGGCTCCCCGCCTTT		Primary coenzyme Q10 deficiency 8	Likely pathogenic (-)
16-19067687-C-T			Uncertain significance (Mar 23, 2022)
16-19067689-G-C			Uncertain significance (Aug 06, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP