ZPBP2 zona pellucida binding protein 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
not provided | 25 | 0 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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36 |
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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
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 |
Search Word
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 | : | |
Filtering | : |
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 | ZPBPL |
MIM | 608499 OMIM |
HGNC | HGNC:20678 HGNC |
Ensembl | ENSG00000186075 Ensembl |
AllianceGenome | HGNC:20678 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000584588.5 | hg38 | chr17 | 39,868,216 | 39,877,149 | 8,934 |
ENST00000377940.3 | hg38 | chr17 | 39,868,216 | 39,877,896 | 9,681 |
ENST00000348931.9 | hg38 | chr17 | 39,868,202 | 39,877,896 | 9,695 |
ENST00000348931.9 | hg19 | chr17 | 38,024,455 | 38,034,149 | 9,695 |
ENST00000584588.5 | hg19 | chr17 | 38,024,469 | 38,033,402 | 8,934 |
ENST00000377940.3 | hg19 | chr17 | 38,024,469 | 38,034,149 | 9,681 |
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