MTERF1 mitochondrial transcription termination factor 1

Information
Symbol
MTERF1
Type
protein-coding
Description
mitochondrial transcription termination factor 1
Entrez Gene ID
7978
Genome
hg19
Position
chr7:91,500,243-91,510,016
Genome
hg38
Position
chr7:91,870,929-91,880,702
MIM
602318 OMIM
HGNC
HGNC:21463 HGNC
Ensembl
ENSG00000127989 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 12
Uncertain significance 0 48
Ranking
ClinVar
0
0
0
64
0
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 MTERF
MIM 602318 OMIM
HGNC HGNC:21463 HGNC
Ensembl ENSG00000127989 Ensembl
AllianceGenome HGNC:21463
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000406735.6 hg38 chr7 91,873,322 91,880,692 7,371
ENST00000419292.1 hg38 chr7 91,870,929 91,880,702 9,774
ENST00000351870.8 hg38 chr7 91,870,929 91,880,702 9,774
ENST00000419292.1 hg19 chr7 91,500,243 91,510,016 9,774
ENST00000351870.8 hg19 chr7 91,500,243 91,510,016 9,774
ENST00000406735.6 hg19 chr7 91,502,636 91,510,006 7,371
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