WBP2 WW domain binding protein 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 32 |
Likely benign | 0 | 68 |
Uncertain significance | 0 | 62 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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28 |
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134 |
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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
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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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Target data | : |
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 |
---|---|
SYNONYM | DFNB107 |
SYNONYM | GRAMD6 |
SYNONYM | WBP-2 |
MIM | 606962 OMIM |
HGNC | HGNC:12738 HGNC |
Ensembl | ENSG00000132471 Ensembl |
AllianceGenome | HGNC:12738 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000591399.5 | hg38 | chr17 | 75,845,720 | 75,856,507 | 10,788 |
ENST00000254806.8 | hg38 | chr17 | 75,845,699 | 75,855,335 | 9,637 |
ENST00000433525.6 | hg38 | chr17 | 75,846,495 | 75,855,335 | 8,841 |
ENST00000626827.2 | hg38 | chr17 | 75,845,699 | 75,855,420 | 9,722 |
ENST00000585462.5 | hg38 | chr17 | 75,845,709 | 75,855,322 | 9,614 |
ENST00000590221.5 | hg38 | chr17 | 75,845,772 | 75,855,306 | 9,535 |
ENST00000254806.8 | hg19 | chr17 | 73,841,780 | 73,851,416 | 9,637 |
ENST00000585462.5 | hg19 | chr17 | 73,841,790 | 73,851,403 | 9,614 |
ENST00000433525.6 | hg19 | chr17 | 73,842,576 | 73,851,416 | 8,841 |
ENST00000590221.5 | hg19 | chr17 | 73,841,853 | 73,851,387 | 9,535 |
ENST00000591399.5 | hg19 | chr17 | 73,841,801 | 73,852,588 | 10,788 |
ENST00000626827.2 | hg19 | chr17 | 73,841,780 | 73,851,501 | 9,722 |
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