TIMM8A translocase of inner mitochondrial membrane 8A

Information
Symbol
TIMM8A
Type
protein-coding
Description
translocase of inner mitochondrial membrane 8A
Entrez Gene ID
1678
Genome
hg19
Position
chrX:100,600,649-100,603,730
Genome
hg38
Position
chrX:101,345,661-101,348,742
MIM
300356 OMIM
HGNC
HGNC:11817 HGNC
Ensembl
ENSG00000126953 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 8
Benign 0 24
Likely benign 0 42
Conflicting classifications of pathogenicity 0 4
not provided 6 2
Uncertain significance 0 22
Ranking
ClinVar
0
0
14
76
20
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 DDP
SYNONYM DDP1
SYNONYM DFN1
SYNONYM MTS
SYNONYM TIM8
MIM 300356 OMIM
HGNC HGNC:11817 HGNC
Ensembl ENSG00000126953 Ensembl
AllianceGenome HGNC:11817
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000644112.2 hg38 chrX 101,345,661 101,348,742 3,082
ENST00000372902.4 hg38 chrX 101,345,661 101,348,742 3,082
ENST00000372902.4 hg19 chrX 100,600,649 100,603,730 3,082
ENST00000644112.2 hg19 chrX 100,600,649 100,603,730 3,082
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