HOXC13 homeobox C13
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Benign | 0 | 6 |
Likely benign | 0 | 10 |
Uncertain significance | 2 | 76 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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96 |
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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 |
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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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 | ECTD9 |
SYNONYM | HOX3 |
SYNONYM | HOX3G |
MIM | 142976 OMIM |
HGNC | HGNC:5125 HGNC |
Ensembl | ENSG00000123364 Ensembl |
AllianceGenome | HGNC:5125 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000243056.5 | hg38 | chr12 | 53,938,831 | 53,946,544 | 7,714 |
ENST00000243056.5 | hg19 | chr12 | 54,332,615 | 54,340,328 | 7,714 |
Key | Value |
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strand | + |
start | 54,332,575 |
Gene Symbol | HOXC13 |
Entrez GeneId | 3,229 |
Chr Band | 12q13.3 |
end | 54,340,327 |
chr | chr12 |
Name | homeo box C13 |
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