KRT4 keratin 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 2 | 96 |
Likely benign | 0 | 46 |
Conflicting classifications of pathogenicity | 0 | 18 |
not provided | 0 | 2 |
Uncertain significance | 0 | 106 |
Ranking
ClinVar | |
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0 |
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0 |
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44 |
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192 |
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4 |
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 | CK-4 |
SYNONYM | CK4 |
SYNONYM | CYK4 |
SYNONYM | K4 |
SYNONYM | WSN1 |
MIM | 123940 OMIM |
HGNC | HGNC:6441 HGNC |
Ensembl | ENSG00000170477 Ensembl |
AllianceGenome | HGNC:6441 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000551956.2 | hg38 | chr12 | 52,806,549 | 52,814,116 | 7,568 |
ENST00000551956.2 | hg19 | chr12 | 53,200,333 | 53,207,900 | 7,568 |
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