NCSTN nicastrin

Information
Symbol
NCSTN
Type
protein-coding
Description
nicastrin
Entrez Gene ID
23385
Genome
hg19
Position
chr1:160,313,173-160,328,739
Genome
hg38
Position
chr1:160,343,383-160,358,949
MIM
605254 OMIM
HGNC
HGNC:17091 HGNC
Ensembl
ENSG00000162736 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 6
Benign 11 64
Likely benign 0 330
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 414
Ranking
ClinVar
0
0
58
758
10
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
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 ATAG1874
MIM 605254 OMIM
HGNC HGNC:17091 HGNC
Ensembl ENSG00000162736 Ensembl
AllianceGenome HGNC:17091
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000294785.10 hg38 chr1 160,343,383 160,358,949 15,567
ENST00000421914.6 hg38 chr1 160,343,316 160,358,884 15,569
ENST00000699528.1 hg38 chr1 160,343,316 160,358,908 15,593
ENST00000699538.1 hg38 chr1 160,343,316 160,358,935 15,620
ENST00000699549.1 hg38 chr1 160,343,316 160,358,940 15,625
ENST00000699546.1 hg38 chr1 160,343,316 160,358,936 15,621
ENST00000699553.1 hg38 chr1 160,343,384 160,358,936 15,553
ENST00000294785.10 hg19 chr1 160,313,173 160,328,739 15,567
ENST00000421914.6 hg19 chr1 160,313,106 160,328,674 15,569
ENST00000699528.1 hg19 chr1 160,313,106 160,328,698 15,593
ENST00000699538.1 hg19 chr1 160,313,106 160,328,725 15,620
ENST00000699549.1 hg19 chr1 160,313,106 160,328,730 15,625
ENST00000699546.1 hg19 chr1 160,313,106 160,328,726 15,621
ENST00000699553.1 hg19 chr1 160,313,174 160,328,726 15,553
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