Variant Results

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Results for "CCDC87"

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
CCDC87	2-1437-003	chr11: 66359351-66359351	G	C	exonic		De novo	nonsynonymous SNV	NM_018219	c.C1136G	p.P379R	13.81	-	Yuen2015 G Yuen2017 G
CCDC87	14203.p1	chr11: 66358293-66358293	C	A	exonic		De novo	stopgain	NM_018219	c.G2194T	p.E732X	21.9	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
CCDC87	iHART2007	chr11: 66359664-66359664	C	A	exonic		Paternal	stopgain	NM_018219	c.G823T	p.E275X	15.71	1.759E-5	Ruzzo2019 G
CCDC87	iHART2006	chr11: 66359664-66359664	C	A	exonic		Paternal	stopgain	NM_018219	c.G823T	p.E275X	15.71	1.759E-5	Ruzzo2019 G
CCDC87	37363	chr11: 66358293-66358293	C	A	exonic		De novo	stopgain	NM_018219	c.G2194T	p.E732X	21.9	-	Fu2022 E
CCDC87	iHART2505	chr11: 66360472-66360473	CG	C	exonic		Paternal	frameshift deletion	NM_018219	c.14delC	p.P5fs	-	-	Ruzzo2019 G
CCDC87	iHART2507	chr11: 66360472-66360473	CG	C	exonic		Paternal	frameshift deletion	NM_018219	c.14delC	p.P5fs	-	-	Ruzzo2019 G
CCDC87	NDAR_INVUD365NYJ_wes1	chr11: 66358680-66358680	T	G	exonic		De novo	nonsynonymous SNV	NM_018219	c.A1807C	p.N603H	8.417	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E

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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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