PCP2 Purkinje cell protein 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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28 |
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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
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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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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 | GPSM4 |
SYNONYM | PCD5 |
MIM | 619344 OMIM |
HGNC | HGNC:30209 HGNC |
Ensembl | ENSG00000174788 Ensembl |
AllianceGenome | HGNC:30209 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000598935.5 | hg38 | chr19 | 7,631,611 | 7,632,971 | 1,361 |
ENST00000311069.6 | hg38 | chr19 | 7,631,615 | 7,633,719 | 2,105 |
ENST00000598935.5 | hg19 | chr19 | 7,696,497 | 7,697,857 | 1,361 |
ENST00000311069.6 | hg19 | chr19 | 7,696,501 | 7,698,605 | 2,105 |
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