chr14:29233535:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:29,233,535-29,239,483 |
| hg38 | chr14:28,764,329-28,770,277 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Developmental Disabilities | NA | BeFree | Detail | |
| <0.001 | Chorea | NA | BeFree | Detail | |
| <0.001 | Dyskinetic syndrome | NA | BeFree | Detail | |
| 0.004 | epilepsy | NA | BeFree,GAD | Detail | |
| <0.001 | Atrial Septal Defects | Our data suggest that a shift toward GABAergic neuron fate caused by FOXG1 is a ... | BeFree | 26186191 | Detail |
| 0.003 | medulloblastoma | NA | BeFree,LHGDN | Detail | |
| 0.122 | microcephaly | NA | BeFree,CTD_human | Detail | |
| <0.001 | Movement Disorders | The aim of this article is to report on the spectrum of movement disorders assoc... | BeFree | 25565401 | Detail |
| <0.001 | Muscle hypotonia | NA | BeFree | Detail | |
| 0.120 | nervous system disorder | NA | CTD_human | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.009 | Rett syndrome | Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) f... | BeFree,GAD,LHGDN | 25389532 | Detail |
| 0.121 | Seizures | NA | BeFree,CTD_human | Detail | |
| <0.001 | Severe mental retardation (I.Q. 20-34) | NA | BeFree | Detail | |
| <0.001 | West syndrome | NA | BeFree | Detail | |
| <0.001 | holoprosencephaly | NA | BeFree | Detail | |
| 0.001 | Encephalopathies | Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encepha... | BeFree | 25565401 | Detail |
| <0.001 | hepatoblastoma | NA | BeFree | Detail | |
| <0.001 | Speech impairment | NA | BeFree | Detail | |
| <0.001 | Lennox-Gastaut syndrome | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| <0.001 | Developmental delay (disorder) | NA | BeFree | Detail | |
| <0.001 | Dysmorphic features | Nucleotide alterations of the coding region of FOXG1 have never caused dysmorphi... | BeFree | 24139857 | Detail |
| <0.001 | Tumor Initiation | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| 0.120 | acrocallosal syndrome | NA | CTD_human | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Autism Spectrum Disorders | FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism... | BeFree | 26186191 | Detail |
| <0.001 | Neurodevelopmental Disorders | Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) f... | BeFree | 25389532 | Detail |
| <0.001 | Glioblastoma multiforme | To our knowledge, our data provide the first comprehensive clinical evidence tha... | BeFree | 25977169 | Detail |
| <0.001 | liver carcinoma | A mechanistic study identified three genes, forkhead box G1 (FOXG1), FOXQ1, and ... | BeFree | 25251503 | Detail |
| <0.001 | Rett Syndrome, Atypical | NA | BeFree | Detail | |
| 0.364 | FOXG1 syndrome | A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Ret... | BeFree,CLINVAR,CTD_human,UNIPROT | 24139857 | Detail |
| 0.364 | FOXG1 syndrome | 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations ... | BeFree,CLINVAR,CTD_human,UNIPROT | 25565401 | Detail |
| 0.120 | intellectual disability | NA | CTD_human | Detail | |
| <0.001 | Congenital Abnormality | NA | BeFree | Detail | |
| <0.001 | autistic disorder | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our data suggest that a shift toward GABAergic neuron fate caused by FOXG1 is a developmental precur... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of this article is to report on the spectrum of movement disorders associated with FOXG1 hap... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is as... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Nucleotide alterations of the coding region of FOXG1 have never caused dysmorphic features. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders. | DisGeNET | Detail |
| Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is as... | DisGeNET | Detail |
| To our knowledge, our data provide the first comprehensive clinical evidence that FOXA2, FOXN2, FOXN... | DisGeNET | Detail |
| A mechanistic study identified three genes, forkhead box G1 (FOXG1), FOXQ1, and FOXE1, as miR-422a t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome. | DisGeNET | Detail |
| 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are as... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr14:29,233,535-29,239,483
- Variant Type
- snv
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