Variant Results

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Results for "FEZF2"

Variant Events: 6

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
FEZF2	SSC02839	chr3: 62356982-62356982	G	A	exonic			nonsynonymous SNV	NM_018008	c.C1030T	p.R344C	13.59	-	Antaki2022 GE
FEZF2	11074.p1	chr3: 62356982-62356982	G	A	exonic		De novo	nonsynonymous SNV	NM_018008	c.C1030T	p.R344C	13.59	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Sanders2012 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
FEZF2	Uddin2014:27	chr3: 62356982-62356982	G	A	exonic		De novo	nonsynonymous SNV	NM_018008	c.C1030T	p.R344C	13.59	-	Uddin2014 E
FEZF2	SP0037344	chr3: 62355946-62355947	AG	A	exonic		De novo	frameshift deletion	NM_018008	c.1191delC	p.A397fs	-	-	Feliciano2019 E Fu2022 E Trost2022 G Zhou2022 GE
FEZF2	11074_p1	chr3: 62356982-62356982	G	A	exonic		De novo	nonsynonymous SNV	NM_018008	c.C1030T	p.R344C	13.59	-	Fu2022 E
FEZF2	2-1176-003	chr3: 62363273-62363273	T	C	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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