MVB12A multivesicular body subunit 12A

Information
Symbol
MVB12A
Type
protein-coding
Description
multivesicular body subunit 12A
Entrez Gene ID
93343
Genome
hg19
Position
chr19:17,530,856-17,536,141
Genome
hg38
Position
chr19:17,420,047-17,425,332
HGNC
HGNC:25153 HGNC
Ensembl
ENSG00000141971 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
48
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
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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 CFBP
SYNONYM FAM125A
HGNC HGNC:25153 HGNC
Ensembl ENSG00000141971 Ensembl
AllianceGenome HGNC:25153
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000528515.5 hg38 chr19 17,420,082 17,424,677 4,596
ENST00000317040.12 hg38 chr19 17,420,047 17,425,332 5,286
ENST00000529939.5 hg38 chr19 17,420,072 17,433,724 13,653
ENST00000317040.12 hg19 chr19 17,530,856 17,536,141 5,286
ENST00000529939.5 hg19 chr19 17,530,881 17,544,533 13,653
ENST00000528515.5 hg19 chr19 17,530,891 17,535,486 4,596
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