CLDN1 claudin 1

Information
Symbol
CLDN1
Type
protein-coding
Description
claudin 1
Entrez Gene ID
9076
Genome
hg19
Position
chr3:190,023,496-190,040,235
Genome
hg38
Position
chr3:190,305,707-190,322,446
MIM
603718 OMIM
HGNC
HGNC:2032 HGNC
Ensembl
ENSG00000163347 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 34
Likely benign 0 36
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 74
Ranking
ClinVar
0
0
30
120
4
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 CLD1
SYNONYM ILVASC
SYNONYM SEMP1
MIM 603718 OMIM
HGNC HGNC:2032 HGNC
Ensembl ENSG00000163347 Ensembl
AllianceGenome HGNC:2032
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295522.4 hg38 chr3 190,305,707 190,322,446 16,740
ENST00000295522.4 hg19 chr3 190,023,496 190,040,235 16,740
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