ASB1 ankyrin repeat and SOCS box containing 1

Information
Symbol
ASB1
Type
protein-coding
Description
ankyrin repeat and SOCS box containing 1
Entrez Gene ID
51665
Genome
hg19
Position
chr2:239,335,568-239,360,891
Genome
hg38
Position
chr2:238,426,927-238,452,250
MIM
605758 OMIM
HGNC
HGNC:16011 HGNC
Ensembl
ENSG00000065802 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
36
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
SYNONYM ASB-1
MIM 605758 OMIM
HGNC HGNC:16011 HGNC
Ensembl ENSG00000065802 Ensembl
AllianceGenome HGNC:16011
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409297.1 hg38 chr2 238,427,004 238,446,617 19,614
ENST00000264607.9 hg38 chr2 238,426,927 238,452,250 25,324
ENST00000264607.9 hg19 chr2 239,335,568 239,360,891 25,324
ENST00000409297.1 hg19 chr2 239,335,645 239,355,258 19,614
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