DSG4 desmoglein 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 18 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 90 |
Likely benign | 0 | 80 |
Conflicting classifications of pathogenicity | 0 | 54 |
Uncertain significance | 0 | 240 |
Ranking
ClinVar | |
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0 |
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0 |
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74 |
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318 |
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14 |
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 |
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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 | CDGF13 |
SYNONYM | CDHF13 |
SYNONYM | HYPT6 |
SYNONYM | LAH |
MIM | 607892 OMIM |
HGNC | HGNC:21307 HGNC |
Ensembl | ENSG00000175065 Ensembl |
AllianceGenome | HGNC:21307 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000308128.9 | hg38 | chr18 | 31,376,777 | 31,414,909 | 38,133 |
ENST00000359747.4 | hg38 | chr18 | 31,376,883 | 31,414,912 | 38,030 |
ENST00000308128.9 | hg19 | chr18 | 28,956,740 | 28,994,872 | 38,133 |
ENST00000359747.4 | hg19 | chr18 | 28,956,846 | 28,994,875 | 38,030 |
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