chr15:65021533:G>A Detail (hg38) (MTFMT)

Information

Genome

Assembly Position
hg19 chr15:65,313,871-65,313,871 View the variant detail on this assembly version.
hg38 chr15:65,021,533-65,021,533

HGVS

Type Transcript Protein
RefSeq NM_139242.3:c.626C>T NP_640335.2:p.Ser209Leu
Ensemble ENST00000220058.9:c.626C>T ENST00000220058.9:p.Ser209Leu
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
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-06-10 criteria provided, multiple submitters, no conflicts Combined oxidative phosphorylation defect type 15 germline maternal unknown Detail
Pathogenic 2015-06-08 no assertion criteria provided Leigh syndrome germline Detail
Pathogenic 2023-11-18 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2015-10-06 criteria provided, single submitter unknown Detail
Pathogenic 2014-03-01 no assertion criteria provided Mitochondrial complex 1 deficiency, nuclear type 27 germline Detail
Pathogenic 2021-04-05 criteria provided, single submitter germline Detail
Pathogenic 2022-01-28 criteria provided, single submitter Mitochondrial complex 1 deficiency, nuclear type 27,Combined oxidative phosphorylation defect type 15 unknown Detail
Pathogenic 2022-01-28 criteria provided, single submitter Mitochondrial complex 1 deficiency, nuclear type 27,Combined oxidative phosphorylation defect type 15 unknown Detail
Pathogenic 2022-08-11 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
0.120 Leigh disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND Combined oxidative phosphorylation defect type 15 ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND Leigh syndrome ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND not provided ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND multiple conditions ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND Mitochondrial complex 1 deficiency, nuclear type 27 ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND See cases ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND multiple conditions ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND multiple conditions ClinVar Detail
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND Inborn genetic diseases ClinVar Detail
NA DisGeNET 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
rs201431517 dbSNP
Genome
hg38
Position
chr15:65,021,533-65,021,533
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8624
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)
120730
Allele Counts in All Race (ExAC)
43
Heterozygous Counts in All Race (ExAC)
43
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.5616665286175765E-4
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