ZBTB18 zinc finger and BTB domain containing 18

Information
Symbol
ZBTB18
Type
protein-coding
Description
zinc finger and BTB domain containing 18
Entrez Gene ID
10472
Genome
hg19
Position
chr1:244,214,585-244,220,778
Genome
hg38
Position
chr1:244,051,283-244,057,476
MIM
608433 OMIM
HGNC
HGNC:13030 HGNC
Ensembl
ENSG00000179456 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 54
Likely pathogenic 0 72
Benign 0 32
Likely benign 0 130
Conflicting classifications of pathogenicity 0 18
not provided 0 8
Uncertain significance 0 158
Ranking
ClinVar
0
0
40
380
18
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 :
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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 :
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 C1DELq42q44
SYNONYM C1DELq43q44
SYNONYM C2H2-171
SYNONYM DEL1Q42Q44
SYNONYM DEL1Q43Q44
SYNONYM MRD22
SYNONYM RP58
SYNONYM TAZ-1
SYNONYM ZNF238
MIM 608433 OMIM
HGNC HGNC:13030 HGNC
Ensembl ENSG00000179456 Ensembl
AllianceGenome HGNC:13030
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000358704.4 hg38 chr1 244,051,283 244,057,476 6,194
ENST00000622512.1 hg38 chr1 244,048,939 244,057,472 8,534
ENST00000696617.1 hg38 chr1 244,051,283 244,057,476 6,194
ENST00000696616.1 hg38 chr1 244,049,799 244,057,472 7,674
ENST00000696615.1 hg38 chr1 244,048,547 244,055,501 6,955
ENST00000696618.1 hg38 chr1 244,052,236 244,057,476 5,241
ENST00000696615.1 hg19 chr1 244,211,849 244,218,803 6,955
ENST00000622512.1 hg19 chr1 244,212,241 244,220,774 8,534
ENST00000696616.1 hg19 chr1 244,213,101 244,220,774 7,674
ENST00000358704.4 hg19 chr1 244,214,585 244,220,778 6,194
ENST00000696617.1 hg19 chr1 244,214,585 244,220,778 6,194
ENST00000696618.1 hg19 chr1 244,215,538 244,220,778 5,241
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