HOXA1 homeobox A1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 16 |
| Likely benign | 0 | 36 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 124 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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18 |
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154 |
![]() |
6 |
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
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BSAS |
| SYNONYM | HOX1 |
| SYNONYM | HOX1F |
| MIM | 142955 OMIM |
| HGNC | HGNC:5099 HGNC |
| Ensembl | ENSG00000105991 Ensembl |
| AllianceGenome | HGNC:5099 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000355633.5 | hg38 | chr7 | 27,093,313 | 27,095,996 | 2,684 |
| ENST00000643460.2 | hg38 | chr7 | 27,092,993 | 27,096,000 | 3,008 |
| ENST00000643460.2 | hg19 | chr7 | 27,132,612 | 27,135,619 | 3,008 |
| ENST00000355633.5 | hg19 | chr7 | 27,132,932 | 27,135,615 | 2,684 |
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