TTC12 tetratricopeptide repeat domain 12

Information
Symbol
TTC12
Type
protein-coding
Description
tetratricopeptide repeat domain 12
Entrez Gene ID
54970
Genome
hg19
Position
chr11:113,186,963-113,237,109
Genome
hg38
Position
chr11:113,316,241-113,366,387
MIM
610732 OMIM
HGNC
HGNC:23700 HGNC
Ensembl
ENSG00000149292 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Benign 0 66
Likely benign 0 24
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 68
Ranking
ClinVar
0
0
12
148
8
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 CILD45
SYNONYM TPARM
MIM 610732 OMIM
HGNC HGNC:23700 HGNC
Ensembl ENSG00000149292 Ensembl
AllianceGenome HGNC:23700
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000314756.7 hg38 chr11 113,316,239 113,373,294 57,056
ENST00000529221.6 hg38 chr11 113,314,583 113,366,387 51,805
ENST00000483239.6 hg38 chr11 113,316,241 113,366,387 50,147
ENST00000393020.5 hg38 chr11 113,314,811 113,383,544 68,734
ENST00000314756.7 hg19 chr11 113,186,961 113,244,016 57,056
ENST00000393020.5 hg19 chr11 113,185,533 113,254,266 68,734
ENST00000483239.6 hg19 chr11 113,186,963 113,237,109 50,147
ENST00000529221.6 hg19 chr11 113,185,305 113,237,109 51,805
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