ZIC2 Zic family member 2

Information
Symbol
ZIC2
Type
protein-coding
Description
Zic family member 2
Entrez Gene ID
7546
Genome
hg19
Position
chr13:100,634,038-100,639,019
Genome
hg38
Position
chr13:99,981,784-99,986,765
MIM
603073 OMIM
HGNC
HGNC:12873 HGNC
Ensembl
ENSG00000043355 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 50
Likely pathogenic 0 28
Benign 0 38
Likely benign 0 246
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 320
Ranking
ClinVar
0
0
76
586
14
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 HPE5
MIM 603073 OMIM
HGNC HGNC:12873 HGNC
Ensembl ENSG00000043355 Ensembl
AllianceGenome HGNC:12873
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376335.8 hg38 chr13 99,981,784 99,986,765 4,982
ENST00000376335.8 hg19 chr13 100,634,038 100,639,019 4,982
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