CLDN4 claudin 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
not provided | 3 | 0 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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20 |
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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
Locus Zoom
Variants
Search Word
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 |
Search Word
Target data | : |
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 | CPE-R |
SYNONYM | CPER |
SYNONYM | CPETR |
SYNONYM | CPETR1 |
SYNONYM | WBSCR8 |
SYNONYM | hCPE-R |
MIM | 602909 OMIM |
HGNC | HGNC:2046 HGNC |
Ensembl | ENSG00000189143 Ensembl |
AllianceGenome | HGNC:2046 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000340958.4 | hg38 | chr7 | 73,830,996 | 73,832,690 | 1,695 |
ENST00000435050.1 | hg38 | chr7 | 73,827,744 | 73,832,684 | 4,941 |
ENST00000431918.1 | hg38 | chr7 | 73,828,174 | 73,832,683 | 4,510 |
ENST00000435050.1 | hg19 | chr7 | 73,242,074 | 73,247,014 | 4,941 |
ENST00000431918.1 | hg19 | chr7 | 73,242,504 | 73,247,013 | 4,510 |
ENST00000340958.4 | hg19 | chr7 | 73,245,326 | 73,247,020 | 1,695 |
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