chr15:65321800:AGCACCCG> Detail (hg19) (MTFMT)

Information

Genome

Assembly Position
hg19 chr15:65,321,800-65,321,807
hg38 chr15:65,029,462-65,029,469 

HGVS

Type Transcript Protein
RefSeq NM_139242.3:c.145_152delCGGGTGCT NP_640335.2:p.Arg49LeufsTer58
Ensemble ENST00000220058.9:c.145_152delCGGGTGCT ENST00000220058.9:p.Arg49LeufsTer58
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 2014-03-01 no assertion criteria provided Combined oxidative phosphorylation defect type 15 germline Detail
Likely pathogenic 2017-05-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 combined oxidative phosphorylation deficiency 15 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) AND Combined oxidative phosphorylation defect type 15 ClinVar Detail
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) AND not provided ClinVar 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
rs587777417 dbSNP
Genome
hg19
Position
chr15:65,321,800-65,321,807
Variant Type
snv
Reference Allele
AGCACCCG
Alternative Allele
-
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