TBC1D7 TBC1 domain family member 7

Information
Symbol
TBC1D7
Type
protein-coding
Description
TBC1 domain family member 7
Entrez Gene ID
51256
Genome
hg19
Position
chr6:13,305,186-13,328,815
Genome
hg38
Position
chr6:13,304,954-13,328,583
MIM
612655 OMIM
HGNC
HGNC:21066 HGNC
Ensembl
ENSG00000145979 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 68
Likely benign 0 66
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 80
Ranking
ClinVar
0
0
36
180
4
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 MGCPH
SYNONYM PIG51
SYNONYM TBC7
MIM 612655 OMIM
HGNC HGNC:21066 HGNC
Ensembl ENSG00000145979 Ensembl
AllianceGenome HGNC:21066
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000607658.5 hg38 chr6 13,305,618 13,328,458 22,841
ENST00000379300.8 hg38 chr6 13,304,951 13,328,537 23,587
ENST00000356436.8 hg38 chr6 13,304,951 13,328,531 23,581
ENST00000379307.6 hg38 chr6 13,304,954 13,328,583 23,630
ENST00000343141.8 hg38 chr6 13,304,954 13,328,583 23,630
ENST00000356436.8 hg19 chr6 13,305,183 13,328,763 23,581
ENST00000379300.8 hg19 chr6 13,305,183 13,328,769 23,587
ENST00000343141.8 hg19 chr6 13,305,186 13,328,815 23,630
ENST00000379307.6 hg19 chr6 13,305,186 13,328,815 23,630
ENST00000607658.5 hg19 chr6 13,305,850 13,328,690 22,841
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