CLDN2 claudin 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 12 |
Likely benign | 0 | 8 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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42 |
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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
Locus Zoom
Variants
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | OAZON |
SYNONYM | claudin-2 |
MIM | 300520 OMIM |
HGNC | HGNC:2041 HGNC |
Ensembl | ENSG00000165376 Ensembl |
AllianceGenome | HGNC:2041 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000541806.6 | hg38 | chrX | 106,900,164 | 106,929,580 | 29,417 |
ENST00000336803.2 | hg38 | chrX | 106,920,402 | 106,930,861 | 10,460 |
ENST00000540876.1 | hg38 | chrX | 106,918,360 | 106,930,859 | 12,500 |
ENST00000541806.6 | hg19 | chrX | 106,143,394 | 106,172,810 | 29,417 |
ENST00000540876.1 | hg19 | chrX | 106,161,590 | 106,174,089 | 12,500 |
ENST00000336803.2 | hg19 | chrX | 106,163,632 | 106,174,091 | 10,460 |
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