chr15:65295576:G>A Detail (hg19) (MTFMT)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr15:65,295,576-65,295,576
hg38	chr15:65,003,238-65,003,238 View the variant detail on this assembly version.

HGVS

MTFMT

Type	Transcript	Protein
RefSeq	NM_139242.3:c.994C>T	NP_640335.2:p.Arg332Ter
Ensemble	ENST00000220058.9:c.994C>T	ENST00000220058.9:p.Arg332Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

MTFMT

Type	Database	ID	Link
Gene	MIM	611766	OMIM
	HGNC	29666	HGNC
	Ensembl	ENSG00000103707	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM276135	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-03-01	no assertion criteria provided	Mitochondrial complex 1 deficiency, nuclear type 27	germline	Detail
Pathogenic	2024-03-21	criteria provided, multiple submitters, no conflicts	Combined oxidative phosphorylation defect type 15	germline maternal unknown	Detail
Pathogenic	2023-10-27	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-02-10	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	combined oxidative phosphorylation deficiency 15	NA	CLINVAR		Detail
0.120	Leigh syndrome due to mitochondrial complex I deficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) AND Mitochondrial complex 1 deficiency, nuclear type 27	ClinVar	Detail
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) AND Combined oxidative phosphorylation defect type 15	ClinVar	Detail
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) AND not provided	ClinVar	Detail
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) AND Inborn genetic diseases	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs200286768 dbSNP
Genome: hg19
Position: chr15:65,295,576-65,295,576
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 7712
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 107528
Allele Counts in All Race (ExAC): 13
Heterozygous Counts in All Race (ExAC): 13
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.2089874265307641E-4

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