Variant Results

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Results for "GLI4"

Variant Events: 7

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
GLI4	SP0028004	chr8: 144359018-144359018	C	A	UTR3		De novo					-	-	Fu2022 E
GLI4	Lim2017:37102	chr8: 144358492-144358492	G	T	exonic		De novo	nonsynonymous SNV	NM_138465	c.G649T	p.G217C	14.72	-	Lim2017 E
GLI4	13529.p1	chr8: 144358823-144358823	A	G	exonic		De novo	nonsynonymous SNV	NM_138465	c.A980G	p.D327G	15.5	9.145E-6	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Trost2022 G
GLI4	13529_p1	chr8: 144358823-144358823	A	G	exonic		De novo	nonsynonymous SNV	NM_138465	c.A980G	p.D327G	15.5	9.145E-6	Fu2022 E
GLI4	14648.p1	chr8: 144358492-144358492	G	T	exonic		De novo	nonsynonymous SNV	NM_138465	c.G649T	p.G217C	14.72	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
GLI4	37102	chr8: 144358492-144358492	G	T	exonic		De novo	nonsynonymous SNV	NM_138465	c.G649T	p.G217C	14.72	-	Fu2022 E Trost2022 G
GLI4	MT_13.3	chr8: 144350870-144350870	G	A	intronic		De novo					-	-	Trost2022 G

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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