Variant Results

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Results for "GTF3C2"

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
GTF3C2	02.s1	chr2: 27550112-27550112	G	A	exonic		De novo	nonsynonymous SNV	NM_001035521 NM_001521	c.C2449T c.C2449T	p.R817C p.R817C	16.7	-	An2014 E
GTF3C2	1-0935-003	chr2: 27563893-27563919	GTGTTTTGTTTTGTTTTGTTTTGTTTT	GTGTTTTGTTTTGTTTTGTTTT	intronic		De novo					-	-	Yuen2017 G
GTF3C2	SSC09405	chr2: 27549589-27549589	G	A	exonic		De novo	nonsynonymous SNV	NM_001035521 NM_001521	c.C2689T c.C2689T	p.R897W p.R897W	9.276	6.604E-5	Fu2022 E
GTF3C2	13760.p1	chr2: 27549589-27549589	G	A	exonic		De novo	nonsynonymous SNV	NM_001035521 NM_001521	c.C2689T c.C2689T	p.R897W p.R897W	9.276	6.604E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
GTF3C2	1-0383-003	chr2: 27575495-27575506	TCTCCTCCTCCT	TCTCCTCCT	intronic		De novo					-	-	Yuen2017 G
GTF3C2	SP0126692	chr2: 27552132-27552132	G	A	exonic		De novo	nonsynonymous SNV	NM_001035521 NM_001521	c.C1895T c.C1895T	p.A632V p.A632V	18.33	-	Fu2022 E

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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