NCAPH non-SMC condensin I complex subunit H

Information
Symbol
NCAPH
Type
protein-coding
Description
non-SMC condensin I complex subunit H
Entrez Gene ID
23397
Genome
hg19
Position
chr2:97,001,504-97,042,829
Genome
hg38
Position
chr2:96,335,766-96,377,091
MIM
602332 OMIM
HGNC
HGNC:1112 HGNC
Ensembl
ENSG00000121152 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 14
Likely benign 0 26
not provided 2 0
Uncertain significance 0 68
Ranking
ClinVar
0
0
8
98
2
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 BRRN1
SYNONYM CAP-H
SYNONYM CAPH
SYNONYM MCPH23
SYNONYM NCAPH1
MIM 602332 OMIM
HGNC HGNC:1112 HGNC
Ensembl ENSG00000121152 Ensembl
AllianceGenome HGNC:1112
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000455200.5 hg38 chr2 96,335,818 96,373,815 37,998
ENST00000240423.9 hg38 chr2 96,335,766 96,377,091 41,326
ENST00000427946.5 hg38 chr2 96,335,796 96,373,707 37,912
ENST00000240423.9 hg19 chr2 97,001,504 97,042,829 41,326
ENST00000427946.5 hg19 chr2 97,001,534 97,039,445 37,912
ENST00000455200.5 hg19 chr2 97,001,556 97,039,553 37,998
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