KRT6A keratin 6A
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 34 |
Likely pathogenic | 0 | 8 |
Benign | 18 | 84 |
Likely benign | 0 | 76 |
not provided | 0 | 46 |
Uncertain significance | 0 | 110 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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48 |
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242 |
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8 |
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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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-6C |
SYNONYM | CK-6E |
SYNONYM | CK6A |
SYNONYM | CK6C |
SYNONYM | CK6D |
SYNONYM | K6A |
SYNONYM | K6C |
SYNONYM | K6D |
SYNONYM | KRT6C |
SYNONYM | KRT6D |
SYNONYM | PC3 |
MIM | 148041 OMIM |
HGNC | HGNC:6443 HGNC |
Ensembl | ENSG00000205420 Ensembl |
AllianceGenome | HGNC:6443 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000330722.7 | hg38 | chr12 | 52,487,176 | 52,493,257 | 6,082 |
ENST00000330722.7 | hg19 | chr12 | 52,880,960 | 52,887,041 | 6,082 |
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