VPS16 VPS16 core subunit of CORVET and HOPS complexes

Information
Symbol
VPS16
Type
protein-coding
Description
VPS16 core subunit of CORVET and HOPS complexes
Entrez Gene ID
64601
Genome
hg19
Position
chr20:2,821,391-2,847,378
Genome
hg38
Position
chr20:2,840,745-2,866,732
MIM
608550 OMIM
HGNC
HGNC:14584 HGNC
Ensembl
ENSG00000215305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 10
Benign 0 28
Likely benign 0 22
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 164
Ranking
ClinVar
0
0
16
212
10
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 DYT30
SYNONYM hVPS16
MIM 608550 OMIM
HGNC HGNC:14584 HGNC
Ensembl ENSG00000215305 Ensembl
AllianceGenome HGNC:14584
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380469.7 hg38 chr20 2,840,703 2,866,732 26,030
ENST00000380445.8 hg38 chr20 2,840,745 2,866,732 25,988
ENST00000380469.7 hg19 chr20 2,821,349 2,847,378 26,030
ENST00000380445.8 hg19 chr20 2,821,391 2,847,378 25,988
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