Variant Results

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Results for "GAK"

Variant Events: 10

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
GAK	1886-23674	chr4: 860151-860151	C	T	splicing		Inherited	splicing				15.72	-	Callaghan2019 G
GAK	1-0139-003	chr4: 886052-886052	G	A	intronic		De novo					-	-	Yuen2017 G
GAK	1-0898-003	chr4: 881932-881932	C	T	intronic		De novo					-	-	Yuen2017 G
GAK	AU066404	chr4: 903522-903522	C	T	intronic		De novo					-	-	Yuen2017 G
GAK	3-0456-000B	chr4: 878161-878161	C	T	intronic		De novo					-	-	Yuen2017 G
GAK	08C77007	chr4: 925905-925905	T	C	exonic		De novo	nonsynonymous SNV	NM_001286833 NM_005255	c.A71G c.A71G	p.D24G p.D24G	23.7	-	Satterstrom2020 E
GAK	3-0456-000	chr4: 878161-878161	C	T	intronic		De novo					-	-	Yuen2017 G
GAK	1-0565-003	chr4: 918355-918355	C	T	intronic		De novo					-	-	Yuen2017 G
GAK	03HI2710A	chr4: 884387-884387	G	A	exonic		De novo	synonymous SNV	NM_001286833 NM_005255	c.C720T c.C1014T	p.Y240Y p.Y338Y	-	6.022E-5	Satterstrom2020 E
GAK	10C102470	chr4: 898481-898481	G	A	exonic		De novo	nonsynonymous SNV	NM_001286833 NM_005255	c.C232T c.C469T	p.R78C p.R157C	13.32	4.18E-5	DeRubeis2014 E Kosmicki2017 E Neale2012 E Satterstrom2020 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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