CLDN7 claudin 7
Clinical Significance
MGeND | ClinVar | |
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Likely benign | 0 | 4 |
Uncertain significance | 0 | 20 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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24 |
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0 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | CEPTRL2 |
SYNONYM | CLDN-7 |
SYNONYM | CPETRL2 |
SYNONYM | Hs.84359 |
SYNONYM | claudin-1 |
MIM | 609131 OMIM |
HGNC | HGNC:2049 HGNC |
Ensembl | ENSG00000181885 Ensembl |
AllianceGenome | HGNC:2049 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000397317.8 | hg38 | chr17 | 7,260,137 | 7,263,213 | 3,077 |
ENST00000360325.11 | hg38 | chr17 | 7,259,903 | 7,262,478 | 2,576 |
ENST00000538261.7 | hg38 | chr17 | 7,259,904 | 7,262,945 | 3,042 |
ENST00000571881.2 | hg38 | chr17 | 7,260,654 | 7,262,343 | 1,690 |
ENST00000360325.11 | hg19 | chr17 | 7,163,222 | 7,165,797 | 2,576 |
ENST00000538261.7 | hg19 | chr17 | 7,163,223 | 7,166,264 | 3,042 |
ENST00000397317.8 | hg19 | chr17 | 7,163,456 | 7,166,532 | 3,077 |
ENST00000571881.2 | hg19 | chr17 | 7,163,973 | 7,165,662 | 1,690 |
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