Variant Results

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Results for "DPH6"

Variant Events: 9

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
DPH6	2-1336-004	chr15: 35708135-35708135	T	C	intronic		De novo					-	-	Yuen2017 G
DPH6	2-0007-004	chr15: 35736443-35736443	T	C	intronic		De novo					-	-	Yuen2017 G
DPH6	AU018A	chr15: 35742921-35742921	T	C	exonic		De novo	nonsynonymous SNV	NM_080650	c.A470G	p.N157S	11.42	-	DeRubeis2014 E Kosmicki2017 E Satterstrom2020 E
DPH6	iHART3167	chr15: 35746972-35746976	TAGTC	T	exonic		Paternal	frameshift deletion	NM_080650	c.358_361del	p.D120fs	-	4.146E-5	Ruzzo2019 G
DPH6	iHART3168	chr15: 35746972-35746976	TAGTC	T	exonic		Paternal	frameshift deletion	NM_080650	c.358_361del	p.D120fs	-	4.146E-5	Ruzzo2019 G
DPH6	1-0559-004	chr15: 35749778-35749778	T	C	intronic		De novo					-	-	Yuen2017 G
DPH6	1-0372-003	chr15: 35707449-35707466	CTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGT	intronic		De novo					-	-	Yuen2017 G
DPH6	3-0446-000	chr15: 35676747-35676747	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
DPH6	AU076509	chr15: 35704753-35704753	A	G	intronic		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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