KRT10 keratin 10
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 58 |
Likely pathogenic | 0 | 10 |
Benign | 4 | 88 |
Likely benign | 0 | 94 |
Conflicting classifications of pathogenicity | 0 | 6 |
not provided | 0 | 28 |
Uncertain significance | 0 | 84 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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42 |
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226 |
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40 |
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 |
Search Word
Target data | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 |
---|---|
SYNONYM | BCIE |
SYNONYM | BIE |
SYNONYM | CK10 |
SYNONYM | EHK |
SYNONYM | EHK2 |
SYNONYM | EHK2A |
SYNONYM | EHK2B |
SYNONYM | IHL |
SYNONYM | K10 |
SYNONYM | KPP |
MIM | 148080 OMIM |
HGNC | HGNC:6413 HGNC |
Ensembl | ENSG00000186395 Ensembl |
AllianceGenome | HGNC:6413 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000269576.6 | hg38 | chr17 | 40,818,117 | 40,822,614 | 4,498 |
ENST00000635956.2 | hg38 | chr17 | 40,818,117 | 40,822,614 | 4,498 |
ENST00000269576.6 | hg19 | chr17 | 38,974,369 | 38,978,866 | 4,498 |
ENST00000635956.2 | hg19 | chr17 | 38,974,369 | 38,978,866 | 4,498 |
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