HOXB1 homeobox B1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Benign | 0 | 16 |
| Likely benign | 0 | 22 |
| Uncertain significance | 0 | 38 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
12 |
 |
58 |
 |
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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| 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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| 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
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| Category | : |
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| 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 | HCFP3 |
| SYNONYM | HOX2 |
| SYNONYM | HOX2I |
| SYNONYM | Hox-2.9 |
| MIM | 142968 OMIM |
| HGNC | HGNC:5111 HGNC |
| Ensembl | ENSG00000120094 Ensembl |
| AllianceGenome | HGNC:5111 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000239174.7 | hg38 | chr17 | 48,528,526 | 48,531,011 | 2,486 |
| ENST00000577092.1 | hg38 | chr17 | 48,529,497 | 48,530,910 | 1,414 |
| ENST00000239174.7 | hg19 | chr17 | 46,605,888 | 46,608,373 | 2,486 |
| ENST00000577092.1 | hg19 | chr17 | 46,606,859 | 46,608,272 | 1,414 |
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