TIMM44 translocase of inner mitochondrial membrane 44

Information
Symbol
TIMM44
Type
protein-coding
Description
translocase of inner mitochondrial membrane 44
Entrez Gene ID
10469
Genome
hg19
Position
chr19:7,991,603-8,008,551
Genome
hg38
Position
chr19:7,926,718-7,943,666
MIM
605058 OMIM
HGNC
HGNC:17316 HGNC
Ensembl
ENSG00000104980 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 60
Likely benign 0 12
Conflicting classifications of pathogenicity 0 2
not provided 0 2
Uncertain significance 0 70
Ranking
ClinVar
0
0
6
134
2
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 TIM44
MIM 605058 OMIM
HGNC HGNC:17316 HGNC
Ensembl ENSG00000104980 Ensembl
AllianceGenome HGNC:17316
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000270538.8 hg38 chr19 7,926,718 7,943,666 16,949
ENST00000270538.8 hg19 chr19 7,991,603 8,008,551 16,949
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