CHAMP1 chromosome alignment maintaining phosphoprotein 1

Information
Symbol
CHAMP1
Type
protein-coding
Description
chromosome alignment maintaining phosphoprotein 1
Entrez Gene ID
283489
Genome
hg19
Position
chr13:115,080,018-115,092,797
Genome
hg38
Position
chr13:114,314,543-114,327,322
MIM
616327 OMIM
HGNC
HGNC:20311 HGNC
Ensembl
ENSG00000198824 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 66
Likely pathogenic 0 28
Benign 0 38
Likely benign 0 110
Conflicting classifications of pathogenicity 0 2
not provided 0 2
Uncertain significance 0 170
Ranking
ClinVar
0
0
62
316
16
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 C13orf8
SYNONYM CAMP
SYNONYM CHAMP
SYNONYM MRD40
SYNONYM NEDHILD
SYNONYM ZNF828
MIM 616327 OMIM
HGNC HGNC:20311 HGNC
Ensembl ENSG00000198824 Ensembl
AllianceGenome HGNC:20311
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000361283.4 hg38 chr13 114,314,503 114,327,322 12,820
ENST00000645174.2 hg38 chr13 114,314,490 114,327,322 12,833
ENST00000643483.2 hg38 chr13 114,314,545 114,327,321 12,777
ENST00000700528.1 hg38 chr13 114,314,545 114,327,321 12,777
ENST00000700527.1 hg38 chr13 114,314,543 114,327,322 12,780
ENST00000644294.2 hg38 chr13 114,314,548 114,327,322 12,775
ENST00000645174.2 hg19 chr13 115,079,965 115,092,797 12,833
ENST00000361283.4 hg19 chr13 115,079,978 115,092,797 12,820
ENST00000700527.1 hg19 chr13 115,080,018 115,092,797 12,780
ENST00000700528.1 hg19 chr13 115,080,020 115,092,796 12,777
ENST00000643483.2 hg19 chr13 115,080,020 115,092,796 12,777
ENST00000644294.2 hg19 chr13 115,080,023 115,092,797 12,775
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