IMMT inner membrane mitochondrial protein

Information
Symbol
IMMT
Type
protein-coding
Description
inner membrane mitochondrial protein
Entrez Gene ID
10989
Genome
hg19
Position
chr2:86,371,059-86,422,585
Genome
hg38
Position
chr2:86,143,936-86,195,462
MIM
600378 OMIM
HGNC
HGNC:6047 HGNC
Ensembl
ENSG00000132305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 12
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
84
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 HMP
SYNONYM MICOS60
SYNONYM MINOS2
SYNONYM Mic60
SYNONYM P87
SYNONYM P87/89
SYNONYM P89
SYNONYM PIG4
SYNONYM PIG52
MIM 600378 OMIM
HGNC HGNC:6047 HGNC
Ensembl ENSG00000132305 Ensembl
AllianceGenome HGNC:6047
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000410111.8 hg38 chr2 86,143,936 86,195,462 51,527
ENST00000409051.6 hg38 chr2 86,143,940 86,195,433 51,494
ENST00000442664.6 hg38 chr2 86,143,936 86,195,403 51,468
ENST00000254636.9 hg38 chr2 86,143,932 86,195,002 51,071
ENST00000449247.6 hg38 chr2 86,143,932 86,195,472 51,541
ENST00000254636.9 hg19 chr2 86,371,055 86,422,125 51,071
ENST00000449247.6 hg19 chr2 86,371,055 86,422,595 51,541
ENST00000442664.6 hg19 chr2 86,371,059 86,422,526 51,468
ENST00000410111.8 hg19 chr2 86,371,059 86,422,585 51,527
ENST00000409051.6 hg19 chr2 86,371,063 86,422,556 51,494
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