CHMP7 charged multivesicular body protein 7

Information
Symbol
CHMP7
Type
protein-coding
Description
charged multivesicular body protein 7
Entrez Gene ID
91782
Genome
hg19
Position
chr8:23,101,150-23,119,512
Genome
hg38
Position
chr8:23,243,637-23,261,999
MIM
611130 OMIM
HGNC
HGNC:28439 HGNC
Ensembl
ENSG00000147457 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
38
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 611130 OMIM
HGNC HGNC:28439 HGNC
Ensembl ENSG00000147457 Ensembl
AllianceGenome HGNC:28439
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000313219.8 hg38 chr8 23,246,091 23,261,999 15,909
ENST00000397677.6 hg38 chr8 23,243,637 23,261,999 18,363
ENST00000397677.6 hg19 chr8 23,101,150 23,119,512 18,363
ENST00000313219.8 hg19 chr8 23,103,604 23,119,512 15,909
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