HS1BP3 HCLS1 binding protein 3

Information
Symbol
HS1BP3
Type
protein-coding
Description
HCLS1 binding protein 3
Entrez Gene ID
64342
Genome
hg19
Position
chr2:20,817,578-20,850,858
Genome
hg38
Position
chr2:20,617,818-20,651,098
MIM
609359 OMIM
HGNC
HGNC:24979 HGNC
Ensembl
ENSG00000118960 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 12
Uncertain significance 0 64
Ranking
ClinVar
0
0
2
76
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 :
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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 ETM2
SYNONYM HS1-BP3
MIM 609359 OMIM
HGNC HGNC:24979 HGNC
Ensembl ENSG00000118960 Ensembl
AllianceGenome HGNC:24979
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000304031.8 hg38 chr2 20,617,818 20,651,098 33,281
ENST00000402541.5 hg38 chr2 20,634,716 20,651,078 16,363
ENST00000631166.1 hg38 chr2 20,641,135 20,651,063 9,929
ENST00000406618.3 hg38 chr2 20,640,025 20,651,084 11,060
ENST00000304031.8 hg19 chr2 20,817,578 20,850,858 33,281
ENST00000402541.5 hg19 chr2 20,834,476 20,850,838 16,363
ENST00000406618.3 hg19 chr2 20,839,785 20,850,844 11,060
ENST00000631166.1 hg19 chr2 20,840,895 20,850,823 9,929
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