TBC1D20 TBC1 domain family member 20

Information
Symbol
TBC1D20
Type
protein-coding
Description
TBC1 domain family member 20
Entrez Gene ID
128637
Genome
hg19
Position
chr20:416,124-443,177
Genome
hg38
Position
chr20:435,480-462,533
MIM
611663 OMIM
HGNC
HGNC:16133 HGNC
Ensembl
ENSG00000125875 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Benign 0 50
Likely benign 0 118
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 100
Ranking
ClinVar
0
0
44
218
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 C20orf140
SYNONYM WARBM4
MIM 611663 OMIM
HGNC HGNC:16133 HGNC
Ensembl ENSG00000125875 Ensembl
AllianceGenome HGNC:16133
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000681539.1 hg38 chr20 435,486 462,550 27,065
ENST00000681129.1 hg38 chr20 435,492 462,519 27,028
ENST00000681414.1 hg38 chr20 435,492 462,516 27,025
ENST00000681551.1 hg38 chr20 435,502 462,539 27,038
ENST00000354200.5 hg38 chr20 435,480 462,533 27,054
ENST00000680050.1 hg38 chr20 436,293 462,516 26,224
ENST00000679895.1 hg38 chr20 435,497 462,539 27,043
ENST00000354200.5 hg19 chr20 416,124 443,177 27,054
ENST00000679895.1 hg19 chr20 416,141 443,183 27,043
ENST00000681551.1 hg19 chr20 416,146 443,183 27,038
ENST00000680050.1 hg19 chr20 416,937 443,160 26,224
ENST00000681129.1 hg19 chr20 416,136 443,163 27,028
ENST00000681414.1 hg19 chr20 416,136 443,160 27,025
ENST00000681539.1 hg19 chr20 416,130 443,194 27,065
Genome browser