NDUFA6-DT

NDUFA6 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 22:42090931-42137742

Previous symbols: [ "NDUFA6-AS1" ]

Links

ENSG00000237037 ∙ NCBI:100132273 ∙ ∙ HGNC:45273 ∙ ∙ ∙ 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 NDUFA6-DT gene.

• Tramadol response (235 variants)
• not provided (31 variants)
• Inborn genetic diseases (20 variants)
• not specified (7 variants)
• Debrisoquine, poor metabolism of (5 variants)
• Tamoxifen response (4 variants)
• Deutetrabenazine response (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDUFA6-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			19	27	1	47
Total	0	0	19	27	1

Variants in NDUFA6-DT

This is a list of pathogenic ClinVar variants found in the NDUFA6-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
22-42126146-C-T		Tramadol response	drug response (Apr 28, 2018)
22-42126196-T-C		Tramadol response	drug response (Apr 28, 2018)
22-42126211-T-C		Tramadol response	drug response (Apr 28, 2018)
22-42126233-A-G		Tramadol response	drug response (Apr 28, 2018)
22-42126242-T-A		Tramadol response	drug response (Apr 28, 2018)
22-42126253-T-C		Tramadol response	drug response (Apr 28, 2018)
22-42126310-C-C		Tramadol response	drug response (Apr 28, 2018)
22-42126336-A-G		Tramadol response	drug response (Apr 28, 2018)
22-42126390-G-A		Tramadol response	drug response (Apr 28, 2018)
22-42126425-A-T		Tramadol response	drug response (Apr 28, 2018)
22-42126462-G-A		Tramadol response	drug response (Apr 28, 2018)
22-42126532-A-G		Tramadol response	drug response (Apr 28, 2018)
22-42126536-T-C		Tramadol response	drug response (Apr 28, 2018)
22-42126597-C-T		not specified	Uncertain significance (Mar 23, 2022)
22-42126611-C-G		not specified	Benign; other (Jan 17, 2024)
22-42126611-C-C		not specified • Tramadol response	Benign/Likely benign (Dec 30, 2023)
22-42126627-A-G		Tramadol response	drug response (Apr 28, 2018)
22-42126667-C-T		Tramadol response	drug response (Apr 28, 2018)
22-42126682-C-G		not specified	Uncertain significance (Dec 19, 2023)
22-42126736-G-A			Likely benign (Dec 01, 2022)
22-42126744-C-T		not specified	Uncertain significance (Jun 22, 2023)
22-42126747-G-A			drug response (-)
22-42126749-C-T			drug response (-)
22-42126753-C-T		Tramadol response	drug response (Apr 28, 2018)
22-42126803-T-C		Tramadol response	drug response (Apr 28, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP