WDR45B WD repeat domain 45B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 14 |
Likely benign | 0 | 16 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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8 |
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44 |
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4 |
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
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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 |
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Target data | : |
MGeND data only
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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 | NEDSBAS |
SYNONYM | WDR45L |
SYNONYM | WIPI-3 |
SYNONYM | WIPI3 |
MIM | 609226 OMIM |
HGNC | HGNC:25072 HGNC |
Ensembl | ENSG00000141580 Ensembl |
AllianceGenome | HGNC:25072 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000392325.9 | hg38 | chr17 | 82,614,562 | 82,648,444 | 33,883 |
ENST00000392325.9 | hg19 | chr17 | 80,572,438 | 80,606,320 | 33,883 |
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