PSENEN presenilin enhancer, gamma-secretase subunit

Information
Symbol
PSENEN
Type
protein-coding
Description
presenilin enhancer, gamma-secretase subunit
Entrez Gene ID
55851
Genome
hg19
Position
chr19:36,236,552-36,238,420
Genome
hg38
Position
chr19:35,745,651-35,747,519
MIM
607632 OMIM
HGNC
HGNC:30100 HGNC
Ensembl
ENSG00000205155 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Benign 5 4
Likely benign 0 32
Uncertain significance 0 34
Ranking
ClinVar
0
0
2
68
14
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 ACNINV2
SYNONYM MDS033
SYNONYM MSTP064
SYNONYM PEN-2
SYNONYM PEN2
MIM 607632 OMIM
HGNC HGNC:30100 HGNC
Ensembl ENSG00000205155 Ensembl
AllianceGenome HGNC:30100
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000587708.7 hg38 chr19 35,745,651 35,747,519 1,869
ENST00000591949.1 hg38 chr19 35,745,600 35,746,993 1,394
ENST00000222266.2 hg38 chr19 35,745,619 35,747,004 1,386
ENST00000591949.1 hg19 chr19 36,236,501 36,237,894 1,394
ENST00000222266.2 hg19 chr19 36,236,520 36,237,905 1,386
ENST00000587708.7 hg19 chr19 36,236,552 36,238,420 1,869
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