TBC1D8B TBC1 domain family member 8B

Information
Symbol
TBC1D8B
Type
protein-coding
Description
TBC1 domain family member 8B
Entrez Gene ID
54885
Genome
hg19
Position
chrX:106,045,903-106,119,380
Genome
hg38
Position
chrX:106,802,673-106,876,150
MIM
301027 OMIM
HGNC
HGNC:24715 HGNC
Ensembl
ENSG00000133138 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 6
Benign 0 54
Likely benign 0 76
Conflicting classifications of pathogenicity 0 14
not provided 6 0
Uncertain significance 0 188
Ranking
ClinVar
0
0
36
274
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
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 GRAMD8B
SYNONYM NPHS20
MIM 301027 OMIM
HGNC HGNC:24715 HGNC
Ensembl ENSG00000133138 Ensembl
AllianceGenome HGNC:24715
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000276175.7 hg38 chrX 106,802,813 106,874,117 71,305
ENST00000481617.6 hg38 chrX 106,802,705 106,830,083 27,379
ENST00000310452.6 hg38 chrX 106,802,689 106,849,831 47,143
ENST00000357242.10 hg38 chrX 106,802,673 106,876,150 73,478
ENST00000357242.10 hg19 chrX 106,045,903 106,119,380 73,478
ENST00000310452.6 hg19 chrX 106,045,919 106,093,061 47,143
ENST00000481617.6 hg19 chrX 106,045,935 106,073,313 27,379
ENST00000276175.7 hg19 chrX 106,046,043 106,117,347 71,305
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