NAPSA napsin A aspartic peptidase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Uncertain significance | 0 | 66 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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68 |
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2 |
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 | KAP |
SYNONYM | Kdap |
SYNONYM | NAP1 |
SYNONYM | NAPA |
SYNONYM | SNAPA |
MIM | 605631 OMIM |
HGNC | HGNC:13395 HGNC |
Ensembl | ENSG00000131400 Ensembl |
AllianceGenome | HGNC:13395 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000598915.6 | hg38 | chr19 | 50,358,477 | 50,365,639 | 7,163 |
ENST00000253719.7 | hg38 | chr19 | 50,358,477 | 50,365,639 | 7,163 |
ENST00000253719.7 | hg19 | chr19 | 50,861,734 | 50,868,896 | 7,163 |
ENST00000598915.6 | hg19 | chr19 | 50,861,734 | 50,868,896 | 7,163 |
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