BTBD18 BTB domain containing 18

Information
Symbol
BTBD18
Type
protein-coding
Description
BTB domain containing 18
Entrez Gene ID
643376
Genome
hg19
Position
chr11:57,510,986-57,519,291
Genome
hg38
Position
chr11:57,743,514-57,751,819
HGNC
HGNC:37214 HGNC
Ensembl
ENSG00000233436 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
58
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
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
HGNC HGNC:37214 HGNC
Ensembl ENSG00000233436 Ensembl
AllianceGenome HGNC:37214
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000436147.3 hg38 chr11 57,743,514 57,751,376 7,863
ENST00000422652.6 hg38 chr11 57,743,514 57,751,819 8,306
ENST00000527995.2 hg38 chr11 57,743,514 57,752,675 9,162
ENST00000436147.3 hg19 chr11 57,510,986 57,518,848 7,863
ENST00000422652.6 hg19 chr11 57,510,986 57,519,291 8,306
ENST00000527995.2 hg19 chr11 57,510,986 57,520,147 9,162
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