Variant Results

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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	SP0088298	chr14: 29237419-29237419	C	A	exonic		De novo	nonsynonymous SNV	NM_005249	c.C934A	p.P312T	25.8	-	Fu2022 E Zhou2022 GE
FOXG1	Alvarez-Mora2016:ASD-10	chr14: 29237941-29237941	C	T	exonic		Maternal	nonsynonymous SNV	NM_005249	c.C1456T	p.P486S	12.53	-	Alvarez-Mora2016 T
FOXG1	F5953-1	chr14: 29237237-29237237	A	G	exonic		De novo	nonsynonymous SNV	NM_005249	c.A752G	p.K251R	26.4	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
FOXG1	AU161A	chr14: 29237624-29237624	C	T	exonic		De novo	nonsynonymous SNV	NM_005249	c.C1139T	p.T380M	12.66	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
FOXG1	AU161A	chr14: 29237631-29237631	C	G	exonic		De novo	synonymous SNV	NM_005249	c.C1146G	p.A382A	-	8.409E-6	DeRubeis2014 E Kosmicki2017 E Zhou2022 GE
FOXG1	NDAR_INVWJ130DDY_wes1	chr14: 29237726-29237726	C	A	exonic		De novo	nonsynonymous SNV	NM_005249	c.C1241A	p.T414N	13.03	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
FOXG1	Chen2021:56	chr14: 29237673-29237673	C	A	exonic		De novo	stopgain	NM_005249	c.C1188A	p.C396X	37.0	-	Chen2021 GET
FOXG1	B0692	chr14: 29237673-29237673	C	A	exonic		De novo	stopgain	NM_005249	c.C1188A	p.C396X	37.0	-	Xiong2019 ET
FOXG1	7-0008-003	chr14: 29237255-29237255	T	G	exonic		De novo	nonsynonymous SNV	NM_005249	c.T770G	p.L257R	21.1	-	Yuen2017 G Zhou2022 GE

Source Variant Information

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Paper Information

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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.
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