NDUFA6 NADH:ubiquinone oxidoreductase subunit A6

Go to:

Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
Genome browser

Information

Symbol: NDUFA6
Type: protein-coding
Description: NADH:ubiquinone oxidoreductase subunit A6
Entrez Gene ID: 4700
Genome: hg19
Position: chr22:42,481,530-42,486,776
Genome: hg38
Position: chr22:42,085,526-42,090,772
MIM: 602138 OMIM
HGNC: HGNC:7690 HGNC
Ensembl: ENSG00000184983 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	10
Likely pathogenic	0	2
Benign	0	12
Likely benign	0	38
Conflicting classifications of pathogenicity	0	4
Uncertain significance	0	62

Ranking

	ClinVar
	0
	0
	18
	90
	10

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	B14
SYNONYM	CI-B14
SYNONYM	LYRM6
SYNONYM	MC1DN33
SYNONYM	NADHB14
MIM	602138 OMIM
HGNC	HGNC:7690 HGNC
Ensembl	ENSG00000184983 Ensembl
AllianceGenome	HGNC:7690

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000617763.1	hg38	chr22	42,085,527	42,090,884	5,358
ENST00000470753.1	hg38	chr22	42,086,116	42,087,335	1,220
ENST00000498737.8	hg38	chr22	42,085,526	42,090,772	5,247
ENST00000498737.8	hg19	chr22	42,481,530	42,486,776	5,247
ENST00000617763.1	hg19	chr22	42,481,531	42,486,888	5,358
ENST00000470753.1	hg19	chr22	42,482,120	42,483,339	1,220

Genome browser