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Results for "FOXG1"

Variant Events: 9

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
FOXG1     Chen2021:56chr14:
29237673-29237673
CAexonicDe novostopgainNM_005249c.C1188Ap.C396X37.0-Chen2021 GET
FOXG1     SP0088298chr14:
29237419-29237419
CAexonicDe novononsynonymous SNVNM_005249c.C934Ap.P312T25.8-Fu2022 E
Zhou2022 GE
FOXG1     Alvarez-Mora2016:ASD-10chr14:
29237941-29237941
CTexonicMaternalnonsynonymous SNVNM_005249c.C1456Tp.P486S12.53-Alvarez-Mora2016 T
FOXG1     F5953-1chr14:
29237237-29237237
AGexonicDe novononsynonymous SNVNM_005249c.A752Gp.K251R26.4-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
FOXG1     AU161Achr14:
29237624-29237624
CTexonicDe novononsynonymous SNVNM_005249c.C1139Tp.T380M12.66-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
FOXG1     AU161Achr14:
29237631-29237631
CGexonicDe novosynonymous SNVNM_005249c.C1146Gp.A382A-8.409E-6DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE
FOXG1     NDAR_INVWJ130DDY_wes1chr14:
29237726-29237726
CAexonicDe novononsynonymous SNVNM_005249c.C1241Ap.T414N13.03-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
FOXG1     B0692chr14:
29237673-29237673
CAexonicDe novostopgainNM_005249c.C1188Ap.C396X37.0-Xiong2019 ET
FOXG1     7-0008-003chr14:
29237255-29237255
TGexonicDe novononsynonymous SNVNM_005249c.T770Gp.L257R21.1-Yuen2017 G
Zhou2022 GE
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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