KERA keratocan
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 16 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 10 |
Likely benign | 0 | 20 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
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0 |
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0 |
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8 |
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72 |
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12 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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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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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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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 | CNA2 |
SYNONYM | KTN |
SYNONYM | SLRR2B |
MIM | 603288 OMIM |
HGNC | HGNC:6309 HGNC |
Ensembl | ENSG00000139330 Ensembl |
AllianceGenome | HGNC:6309 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000266719.4 | hg38 | chr12 | 91,050,491 | 91,058,024 | 7,534 |
ENST00000266719.4 | hg19 | chr12 | 91,444,268 | 91,451,801 | 7,534 |
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