Variant Results

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Results for "C2orf71"

Variant Events: 8

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
C2orf71	SSC00048	chr2: 29287926-29287926	C	CTCT	exonic		De novo	nonframeshift insertion	NM_001029883	c.3675_3676insAGA	p.E1226delinsRE	-	-	Fu2022 E
C2orf71	AU3368302	chr2: 29288594-29288594	C	T	intronic		De novo					-	-	Yuen2017 G
C2orf71	11509.p1	chr2: 29287926-29287926	C	CTCT	exonic		De novo	nonframeshift insertion	NM_001029883	c.3675_3676insAGA	p.E1226delinsRE	-	-	Satterstrom2020 E
C2orf71	SSC08056	chr2: 29295335-29295335	G	A	exonic		De novo	nonsynonymous SNV	NM_001029883	c.C1793T	p.S598L	10.8	-	Fu2022 E Lim2017 E
C2orf71	1-0169-003	chr2: 29314655-29314655	C	T	intergenic		De novo					-	-	Yuen2017 G
C2orf71	2-1617-003	chr2: 29299872-29299872	G	A	intergenic		De novo					-	-	Yuen2017 G
C2orf71	13836.p1	chr2: 29295335-29295335	G	A	exonic		De novo	nonsynonymous SNV	NM_001029883	c.C1793T	p.S598L	10.8	-	Ji2016 E Krumm2015 E Satterstrom2020 E
C2orf71	SP0053359	chr2: 29296722-29296722	C	T	exonic		De novo	nonsynonymous SNV	NM_001029883	c.G406A	p.E136K	11.81	-	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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