TOMM40 translocase of outer mitochondrial membrane 40

Information
Symbol
TOMM40
Type
protein-coding
Description
translocase of outer mitochondrial membrane 40
Entrez Gene ID
10452
Genome
hg19
Position
chr19:45,394,511-45,406,946
Genome
hg38
Position
chr19:44,891,254-44,903,689
MIM
608061 OMIM
HGNC
HGNC:18001 HGNC
Ensembl
ENSG00000130204 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
not provided 5 0
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
42
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
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 C19orf1
SYNONYM D19S1177E
SYNONYM PER-EC1
SYNONYM PEREC1
SYNONYM TOM40
MIM 608061 OMIM
HGNC HGNC:18001 HGNC
Ensembl ENSG00000130204 Ensembl
AllianceGenome HGNC:18001
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000592434.5 hg38 chr19 44,891,231 44,903,686 12,456
ENST00000426677.7 hg38 chr19 44,891,254 44,903,689 12,436
ENST00000252487.9 hg38 chr19 44,891,220 44,903,689 12,470
ENST00000405636.6 hg38 chr19 44,891,220 44,903,688 12,469
ENST00000405636.6 hg19 chr19 45,394,477 45,406,945 12,469
ENST00000252487.9 hg19 chr19 45,394,477 45,406,946 12,470
ENST00000592434.5 hg19 chr19 45,394,488 45,406,943 12,456
ENST00000426677.7 hg19 chr19 45,394,511 45,406,946 12,436
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