TBC1D3 TBC1 domain family member 3
Clinical Significance
MGeND | ClinVar | |
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Likely benign | 0 | 1 |
Uncertain significance | 0 | 1 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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2 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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Variants
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | PRC17 |
SYNONYM | TBC1D3A |
SYNONYM | TBC1D3C |
SYNONYM | TBC1D3D |
SYNONYM | TBC1D3F |
SYNONYM | TBC1D3L |
MIM | 607741 OMIM |
HGNC | HGNC:19031 HGNC |
Ensembl | ENSG00000274611 Ensembl |
AllianceGenome | HGNC:19031 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000620215.3 | hg38 | chr17 | 38,181,659 | 38,192,555 | 10,897 |
Key | Value |
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strand | + |
UniProt | OG |
start | 36,284,004 |
Gene Symbol | TBC1D3 |
Entrez GeneId | 729,873 |
Chr Band | 17q12 |
end | 36,348,620 |
chr | chr17 |
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