MTRF1 mitochondrial translation release factor 1

Information
Symbol
MTRF1
Type
protein-coding
Description
mitochondrial translation release factor 1
Entrez Gene ID
9617
Genome
hg19
Position
chr13:41,790,505-41,837,712
Genome
hg38
Position
chr13:41,216,369-41,263,576
MIM
604601 OMIM
HGNC
HGNC:7469 HGNC
Ensembl
ENSG00000120662 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
50
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 MRF1
SYNONYM MTTRF1
SYNONYM RF1
MIM 604601 OMIM
HGNC HGNC:7469 HGNC
Ensembl ENSG00000120662 Ensembl
AllianceGenome HGNC:7469
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379477.5 hg38 chr13 41,216,975 41,263,484 46,510
ENST00000379480.9 hg38 chr13 41,216,369 41,263,576 47,208
ENST00000430347.3 hg38 chr13 41,257,756 41,263,577 5,822
ENST00000379480.9 hg19 chr13 41,790,505 41,837,712 47,208
ENST00000379477.5 hg19 chr13 41,791,111 41,837,620 46,510
ENST00000430347.3 hg19 chr13 41,831,892 41,837,713 5,822
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