chr14:28764329:> Detail (hg38)

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

DescrptionSourceLinks
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
hg38
Position
chr14:28,764,329-28,770,277
Variant Type
snv
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