AEBP1 AE binding protein 1

Information
Symbol
AEBP1
Type
protein-coding
Description
AE binding protein 1
Entrez Gene ID
165
Genome
hg19
Position
chr7:44,143,944-44,154,159
Genome
hg38
Position
chr7:44,104,345-44,114,560
MIM
602981 OMIM
HGNC
HGNC:303 HGNC
Ensembl
ENSG00000106624 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 44
Likely pathogenic 0 18
Benign 0 110
Likely benign 0 490
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 364
Ranking
ClinVar
0
0
146
838
6
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 ACLP
MIM 602981 OMIM
HGNC HGNC:303 HGNC
Ensembl ENSG00000106624 Ensembl
AllianceGenome HGNC:303
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000450684.2 hg38 chr7 44,110,731 44,114,562 3,832
ENST00000223357.8 hg38 chr7 44,104,345 44,114,560 10,216
ENST00000223357.8 hg19 chr7 44,143,944 44,154,159 10,216
ENST00000450684.2 hg19 chr7 44,150,330 44,154,161 3,832
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