MAD2L1BP MAD2L1 binding protein

Information
Symbol
MAD2L1BP
Type
protein-coding
Description
MAD2L1 binding protein
Entrez Gene ID
9587
Genome
hg19
Position
chr6:43,597,277-43,608,656
Genome
hg38
Position
chr6:43,629,540-43,640,919
MIM
618136 OMIM
HGNC
HGNC:21059 HGNC
Ensembl
ENSG00000124688 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
26
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 CMT2
SYNONYM p31comet
MIM 618136 OMIM
HGNC HGNC:21059 HGNC
Ensembl ENSG00000124688 Ensembl
AllianceGenome HGNC:21059
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000451025.6 hg38 chr6 43,629,540 43,640,919 11,380
ENST00000372171.5 hg38 chr6 43,635,840 43,640,941 5,102
ENST00000451025.6 hg19 chr6 43,597,277 43,608,656 11,380
ENST00000372171.5 hg19 chr6 43,603,577 43,608,678 5,102
Genome browser