TBC1D24 TBC1 domain family member 24

Information
Symbol
TBC1D24
Type
protein-coding
Description
TBC1 domain family member 24
Entrez Gene ID
57465
Genome
hg19
Position
chr16:2,525,128-2,555,731
Genome
hg38
Position
chr16:2,475,127-2,505,730
MIM
613577 OMIM
HGNC
HGNC:29203 HGNC
Ensembl
ENSG00000162065 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 142
Likely pathogenic 0 52
Benign 0 114
Likely benign 0 516
Conflicting classifications of pathogenicity 0 146
Uncertain significance 0 922
Ranking
ClinVar
0
0
410
1,250
30
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 DEE16
SYNONYM DFNA65
SYNONYM DFNB86
SYNONYM DOORS
SYNONYM EIEE16
SYNONYM EIM
SYNONYM EPRPDC
SYNONYM FIME
SYNONYM TLDC6
MIM 613577 OMIM
HGNC HGNC:29203 HGNC
Ensembl ENSG00000162065 Ensembl
AllianceGenome HGNC:29203
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000627285.1 hg38 chr16 2,493,597 2,503,453 9,857
ENST00000646147.1 hg38 chr16 2,475,127 2,505,730 30,604
ENST00000567020.6 hg38 chr16 2,475,051 2,505,734 30,684
ENST00000567020.6 hg19 chr16 2,525,052 2,555,735 30,684
ENST00000646147.1 hg19 chr16 2,525,128 2,555,731 30,604
ENST00000627285.1 hg19 chr16 2,543,598 2,553,454 9,857
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