CLSTN3 calsyntenin 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
association | 0 | 2 |
Uncertain significance | 0 | 116 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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126 |
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2 |
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 |
Prediction | |||||
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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 | CDHR14 |
SYNONYM | CSTN3 |
SYNONYM | alcbeta |
MIM | 611324 OMIM |
HGNC | HGNC:18371 HGNC |
Ensembl | ENSG00000139182 Ensembl |
AllianceGenome | HGNC:18371 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000266546.11 | hg38 | chr12 | 7,130,371 | 7,158,945 | 28,575 |
ENST00000535313.2 | hg38 | chr12 | 7,155,868 | 7,158,305 | 2,438 |
ENST00000331148.5 | hg38 | chr12 | 7,155,905 | 7,158,945 | 3,041 |
ENST00000266546.11 | hg19 | chr12 | 7,282,967 | 7,311,541 | 28,575 |
ENST00000535313.2 | hg19 | chr12 | 7,308,464 | 7,310,901 | 2,438 |
ENST00000331148.5 | hg19 | chr12 | 7,308,501 | 7,311,541 | 3,041 |
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