MGME1 mitochondrial genome maintenance exonuclease 1

Information
Symbol
MGME1
Type
protein-coding
Description
mitochondrial genome maintenance exonuclease 1
Entrez Gene ID
92667
Genome
hg19
Position
chr20:17,949,661-17,971,765
Genome
hg38
Position
chr20:17,969,018-17,991,122
MIM
615076 OMIM
HGNC
HGNC:16205 HGNC
Ensembl
ENSG00000125871 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 2
Benign 0 38
Likely benign 0 100
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 134
Ranking
ClinVar
0
0
60
220
4
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
Entry Origin Type Annotation Entry Origin Annotation
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
Entry Origin Type Annotation
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
Entry Origin Type Annotation
TypeID
SYNONYM C20orf72
SYNONYM DDK1
SYNONYM MTDPS11
SYNONYM bA504H3.4
MIM 615076 OMIM
HGNC HGNC:16205 HGNC
Ensembl ENSG00000125871 Ensembl
AllianceGenome HGNC:16205
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377710.10 hg38 chr20 17,969,018 17,991,122 22,105
ENST00000377704.4 hg38 chr20 17,969,115 17,991,122 22,008
ENST00000377709.1 hg38 chr20 17,969,073 17,991,122 22,050
ENST00000377710.10 hg19 chr20 17,949,661 17,971,765 22,105
ENST00000377709.1 hg19 chr20 17,949,716 17,971,765 22,050
ENST00000377704.4 hg19 chr20 17,949,758 17,971,765 22,008
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