TBC1D30 TBC1 domain family member 30

Information
Symbol
TBC1D30
Type
protein-coding
Description
TBC1 domain family member 30
Entrez Gene ID
23329
Genome
hg19
Position
chr12:65,218,427-65,274,813
Genome
hg38
Position
chr12:64,824,647-64,881,033
MIM
615077 OMIM
HGNC
HGNC:29164 HGNC
Ensembl
ENSG00000111490 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
76
0
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 :
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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
MIM 615077 OMIM
HGNC HGNC:29164 HGNC
Ensembl ENSG00000111490 Ensembl
AllianceGenome HGNC:29164
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000542120.6 hg38 chr12 64,780,516 64,881,032 100,517
ENST00000674237.1 hg38 chr12 64,759,484 64,878,623 119,140
ENST00000539867.6 hg38 chr12 64,824,647 64,881,033 56,387
ENST00000674237.1 hg19 chr12 65,153,264 65,272,403 119,140
ENST00000542120.6 hg19 chr12 65,174,296 65,274,812 100,517
ENST00000539867.6 hg19 chr12 65,218,427 65,274,813 56,387
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