NAPSA napsin A aspartic peptidase

Information
Symbol
NAPSA
Type
protein-coding
Description
napsin A aspartic peptidase
Entrez Gene ID
9476
Genome
hg19
Position
chr19:50,861,734-50,868,896
Genome
hg38
Position
chr19:50,358,477-50,365,639
MIM
605631 OMIM
HGNC
HGNC:13395 HGNC
Ensembl
ENSG00000131400 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
68
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
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
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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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
Entry Origin Type Annotation
TypeID
SYNONYM KAP
SYNONYM Kdap
SYNONYM NAP1
SYNONYM NAPA
SYNONYM SNAPA
MIM 605631 OMIM
HGNC HGNC:13395 HGNC
Ensembl ENSG00000131400 Ensembl
AllianceGenome HGNC:13395
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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