CHMP1B charged multivesicular body protein 1B

Information
Symbol
CHMP1B
Type
protein-coding
Description
charged multivesicular body protein 1B
Entrez Gene ID
57132
Genome
hg19
Position
chr18:11,851,412-11,854,443
Genome
hg38
Position
chr18:11,851,413-11,854,444
MIM
606486 OMIM
HGNC
HGNC:24287 HGNC
Ensembl
ENSG00000255112 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
34
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
SYNONYM C10orf2
SYNONYM C18-ORF2
SYNONYM C18orf2
SYNONYM CHMP1.5
SYNONYM Vps46-2
SYNONYM Vps46B
SYNONYM hVps46-2
MIM 606486 OMIM
HGNC HGNC:24287 HGNC
Ensembl ENSG00000255112 Ensembl
AllianceGenome HGNC:24287
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000526991.3 hg38 chr18 11,851,413 11,854,444 3,032
ENST00000526991.3 hg19 chr18 11,851,412 11,854,443 3,032
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