NPTX1 neuronal pentraxin 1

Information
Symbol
NPTX1
Type
protein-coding
Description
neuronal pentraxin 1
Entrez Gene ID
4884
Genome
hg19
Position
chr17:78,440,634-78,450,407
Genome
hg38
Position
chr17:80,466,834-80,476,607
MIM
602367 OMIM
HGNC
HGNC:7952 HGNC
Ensembl
ENSG00000171246 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 0 4
Likely benign 0 6
Uncertain significance 0 46
Ranking
ClinVar
0
0
2
58
6
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
Category :
Search word :
Filtering :
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 :
Filtering :
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 :
Search word :
Filtering :
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 NP1
SYNONYM SCA50
MIM 602367 OMIM
HGNC HGNC:7952 HGNC
Ensembl ENSG00000171246 Ensembl
AllianceGenome HGNC:7952
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000571100.2 hg38 chr17 80,467,157 80,475,812 8,656
ENST00000306773.5 hg38 chr17 80,466,834 80,476,607 9,774
ENST00000306773.5 hg19 chr17 78,440,634 78,450,407 9,774
ENST00000571100.2 hg19 chr17 78,440,957 78,449,612 8,656
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