WSB1 WD repeat and SOCS box containing 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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60 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | SWIP1 |
SYNONYM | WSB-1 |
MIM | 610091 OMIM |
HGNC | HGNC:19221 HGNC |
Ensembl | ENSG00000109046 Ensembl |
AllianceGenome | HGNC:19221 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000583193.5 | hg38 | chr17 | 27,294,112 | 27,307,870 | 13,759 |
ENST00000348811.6 | hg38 | chr17 | 27,294,131 | 27,312,887 | 18,757 |
ENST00000262394.7 | hg38 | chr17 | 27,294,114 | 27,315,926 | 21,813 |
ENST00000579733.5 | hg38 | chr17 | 27,294,103 | 27,308,847 | 14,745 |
ENST00000581185.5 | hg38 | chr17 | 27,294,114 | 27,307,789 | 13,676 |
ENST00000427287.6 | hg38 | chr17 | 27,294,114 | 27,307,992 | 13,879 |
ENST00000581185.5 | hg19 | chr17 | 25,621,140 | 25,634,815 | 13,676 |
ENST00000579733.5 | hg19 | chr17 | 25,621,129 | 25,635,873 | 14,745 |
ENST00000262394.7 | hg19 | chr17 | 25,621,140 | 25,642,952 | 21,813 |
ENST00000348811.6 | hg19 | chr17 | 25,621,157 | 25,639,913 | 18,757 |
ENST00000427287.6 | hg19 | chr17 | 25,621,140 | 25,635,018 | 13,879 |
ENST00000583193.5 | hg19 | chr17 | 25,621,138 | 25,634,896 | 13,759 |
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