MTRFR mitochondrial translation release factor in rescue

Information
Symbol
MTRFR
Type
protein-coding
Description
mitochondrial translation release factor in rescue
Entrez Gene ID
91574
Genome
hg19
Position
chr12:123,732,825-123,741,578
Genome
hg38
Position
chr12:123,248,278-123,257,031
MIM
613541 OMIM
HGNC
HGNC:26784 HGNC
Ensembl
ENSG00000130921 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 28
Likely pathogenic 0 18
Benign 0 22
Likely benign 0 78
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 154
Ranking
ClinVar
0
0
54
234
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
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 C12orf65
SYNONYM COXPD7
SYNONYM SPG55
SYNONYM mtRF-R
MIM 613541 OMIM
HGNC HGNC:26784 HGNC
Ensembl ENSG00000130921 Ensembl
AllianceGenome HGNC:26784
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000253233.6 hg38 chr12 123,233,436 123,257,960 24,525
ENST00000543139.2 hg38 chr12 123,248,278 123,257,031 8,754
ENST00000536130.2 hg38 chr12 123,233,462 123,257,929 24,468
ENST00000366329.7 hg38 chr12 123,233,446 123,258,079 24,634
ENST00000679849.1 hg38 chr12 123,248,253 123,258,079 9,827
ENST00000546132.2 hg38 chr12 123,233,449 123,256,585 23,137
ENST00000429587.2 hg38 chr12 123,253,390 123,257,571 4,182
ENST00000253233.6 hg19 chr12 123,717,983 123,742,507 24,525
ENST00000366329.7 hg19 chr12 123,717,993 123,742,626 24,634
ENST00000546132.2 hg19 chr12 123,717,996 123,741,132 23,137
ENST00000536130.2 hg19 chr12 123,718,009 123,742,476 24,468
ENST00000679849.1 hg19 chr12 123,732,800 123,742,626 9,827
ENST00000543139.2 hg19 chr12 123,732,825 123,741,578 8,754
ENST00000429587.2 hg19 chr12 123,737,937 123,742,118 4,182
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