FOXG1 forkhead box G1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 11 | 354 |
| Likely pathogenic | 0 | 168 |
| Benign | 0 | 112 |
| Likely benign | 0 | 490 |
| Conflicting classifications of pathogenicity | 0 | 54 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 352 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
70 |
 |
294 |
 |
1,042 |
 |
8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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Variants
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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 | |||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BF1 |
| SYNONYM | BF2 |
| SYNONYM | FHKL3 |
| SYNONYM | FKH2 |
| SYNONYM | FKHL1 |
| SYNONYM | FKHL2 |
| SYNONYM | FKHL3 |
| SYNONYM | FKHL4 |
| SYNONYM | FOXG1A |
| SYNONYM | FOXG1B |
| SYNONYM | FOXG1C |
| SYNONYM | HBF-1 |
| SYNONYM | HBF-2 |
| SYNONYM | HBF-3 |
| SYNONYM | HBF-G2 |
| SYNONYM | HBF2 |
| SYNONYM | HFK1 |
| SYNONYM | HFK2 |
| SYNONYM | HFK3 |
| SYNONYM | KHL2 |
| SYNONYM | QIN |
| MIM | 164874 OMIM |
| HGNC | HGNC:3811 HGNC |
| Ensembl | ENSG00000176165 Ensembl |
| AllianceGenome | HGNC:3811 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000706482.1 | hg38 | chr14 | 28,764,329 | 28,770,277 | 5,949 |
| ENST00000313071.7 | hg38 | chr14 | 28,766,787 | 28,770,277 | 3,491 |
| ENST00000706482.1 | hg19 | chr14 | 29,233,535 | 29,239,483 | 5,949 |
| ENST00000313071.7 | hg19 | chr14 | 29,235,993 | 29,239,483 | 3,491 |
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