IGHMBP2 immunoglobulin mu DNA binding protein 2

Information
Symbol
IGHMBP2
Type
protein-coding
Description
immunoglobulin mu DNA binding protein 2
Entrez Gene ID
3508
Genome
hg19
Position
chr11:68,671,359-68,708,069
Genome
hg38
Position
chr11:68,903,891-68,940,601
MIM
600502 OMIM
HGNC
HGNC:5542 HGNC
Ensembl
ENSG00000132740 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 218
Likely pathogenic 0 108
Benign 0 192
Likely benign 0 1,070
Conflicting classifications of pathogenicity 0 216
Uncertain significance 0 1,042
Ranking
ClinVar
0
0
562
1,866
96
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CATF1
SYNONYM CMT2S
SYNONYM HCSA
SYNONYM HMN6
SYNONYM HMNR1
SYNONYM SMARD1
SYNONYM SMUBP2
SYNONYM ZFAND7
MIM 600502 OMIM
HGNC HGNC:5542 HGNC
Ensembl ENSG00000132740 Ensembl
AllianceGenome HGNC:5542
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000675615.1 hg38 chr11 68,903,863 68,939,746 35,884
ENST00000255078.8 hg38 chr11 68,903,891 68,940,601 36,711
ENST00000255078.8 hg19 chr11 68,671,359 68,708,069 36,711
ENST00000675615.1 hg19 chr11 68,671,331 68,707,214 35,884
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