CHPF2 chondroitin polymerizing factor 2

Information
Symbol
CHPF2
Type
protein-coding
Description
chondroitin polymerizing factor 2
Entrez Gene ID
54480
Genome
hg19
Position
chr7:150,929,569-150,935,908
Genome
hg38
Position
chr7:151,232,483-151,238,822
MIM
608037 OMIM
HGNC
HGNC:29270 HGNC
Ensembl
ENSG00000033100 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 8
Uncertain significance 0 116
Ranking
ClinVar
0
0
0
128
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 :
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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 :
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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 CSGLCA-T
SYNONYM CSGlcAT
SYNONYM ChSy-3
SYNONYM chPF-2
MIM 608037 OMIM
HGNC HGNC:29270 HGNC
Ensembl ENSG00000033100 Ensembl
AllianceGenome HGNC:29270
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000690577.1 hg38 chr7 151,233,353 151,237,538 4,186
ENST00000482173.6 hg38 chr7 151,232,489 151,238,681 6,193
ENST00000035307.7 hg38 chr7 151,232,483 151,238,822 6,340
ENST00000692651.1 hg38 chr7 151,233,353 151,238,681 5,329
ENST00000495645.5 hg38 chr7 151,232,489 151,238,819 6,331
ENST00000035307.7 hg19 chr7 150,929,569 150,935,908 6,340
ENST00000482173.6 hg19 chr7 150,929,575 150,935,767 6,193
ENST00000495645.5 hg19 chr7 150,929,575 150,935,905 6,331
ENST00000690577.1 hg19 chr7 150,930,439 150,934,624 4,186
ENST00000692651.1 hg19 chr7 150,930,439 150,935,767 5,329
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