TBC1D17 TBC1 domain family member 17

Information
Symbol
TBC1D17
Type
protein-coding
Description
TBC1 domain family member 17
Entrez Gene ID
79735
Genome
hg19
Position
chr19:50,380,959-50,392,007
Genome
hg38
Position
chr19:49,877,702-49,888,750
MIM
616659 OMIM
HGNC
HGNC:25699 HGNC
Ensembl
ENSG00000104946 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 84
Ranking
ClinVar
0
0
0
88
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 :
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
MIM 616659 OMIM
HGNC HGNC:25699 HGNC
Ensembl ENSG00000104946 Ensembl
AllianceGenome HGNC:25699
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000221543.10 hg38 chr19 49,877,702 49,888,750 11,049
ENST00000535102.6 hg38 chr19 49,877,666 49,888,743 11,078
ENST00000535102.6 hg19 chr19 50,380,923 50,392,000 11,078
ENST00000221543.10 hg19 chr19 50,380,959 50,392,007 11,049
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