KRT9 keratin 9
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 26 |
Likely pathogenic | 0 | 12 |
Benign | 10 | 62 |
Likely benign | 0 | 58 |
Conflicting classifications of pathogenicity | 0 | 26 |
not provided | 0 | 20 |
Uncertain significance | 0 | 170 |
Ranking
ClinVar | |
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0 |
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0 |
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60 |
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218 |
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20 |
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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Category | : |
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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 |
---|---|
SYNONYM | CK-9 |
SYNONYM | EPPK |
SYNONYM | EPPK1 |
SYNONYM | K9 |
MIM | 607606 OMIM |
HGNC | HGNC:6447 HGNC |
Ensembl | ENSG00000171403 Ensembl |
AllianceGenome | HGNC:6447 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000588431.1 | hg38 | chr17 | 41,566,104 | 41,572,053 | 5,950 |
ENST00000246662.9 | hg38 | chr17 | 41,565,836 | 41,572,059 | 6,224 |
ENST00000246662.9 | hg19 | chr17 | 39,722,088 | 39,728,311 | 6,224 |
ENST00000588431.1 | hg19 | chr17 | 39,722,356 | 39,728,305 | 5,950 |
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