HOXA13 homeobox A13
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 14 |
Likely pathogenic | 1 | 6 |
Benign | 0 | 28 |
Likely benign | 0 | 104 |
Conflicting classifications of pathogenicity | 0 | 2 |
no classification for the single variant | 0 | 2 |
Uncertain significance | 0 | 144 |
Ranking
ClinVar | |
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0 |
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0 |
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38 |
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230 |
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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 |
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SYNONYM | HOX1 |
SYNONYM | HOX1J |
MIM | 142959 OMIM |
HGNC | HGNC:5102 HGNC |
Ensembl | ENSG00000106031 Ensembl |
AllianceGenome | HGNC:5102 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000649031.1 | hg38 | chr7 | 27,194,364 | 27,200,091 | 5,728 |
ENST00000649031.1 | hg19 | chr7 | 27,233,983 | 27,239,710 | 5,728 |
Key | Value |
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strand | - |
start | 27,236,498 |
Gene Symbol | HOXA13 |
Entrez GeneId | 3,209 |
Chr Band | 7p15-p14.2 |
end | 27,239,724 |
chr | chr7 |
Name | homeo box A13 |
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