Variant Results

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Results for "GRK4"

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
GRK4	SP0107096	chr4: 3029718-3029718	C	T	exonic		De novo	synonymous SNV	NM_001004056 NM_005307 NM_001004057 NM_182982	c.C954T c.C954T c.C1050T c.C1050T	p.V318V p.V318V p.V350V p.V350V	-	8.238E-6	Fu2022 E
GRK4	12058.p1	chr4: 3031020-3031020	C	G	exonic		De novo	nonsynonymous SNV	NM_001004056 NM_005307 NM_001004057 NM_182982	c.C1057G c.C1057G c.C1153G c.C1153G	p.P353A p.P353A p.P385A p.P385A	24.9	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
GRK4	1-0282-003	chr4: 3063963-3063963	T	TGAGACTGGTTTAAAA	intergenic		De novo					-	-	Yuen2017 G
GRK4	3-0446-000	chr4: 3043835-3043835	G	T	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
GRK4	SSC03679	chr4: 3031020-3031020	C	G	exonic		De novo	nonsynonymous SNV	NM_001004056 NM_005307 NM_001004057 NM_182982	c.C1057G c.C1057G c.C1153G c.C1153G	p.P353A p.P353A p.P385A p.P385A	24.9	-	Fu2022 E Lim2017 E
GRK4	SP0014263	chr4: 3040032-3040032	G	A	intronic		De novo					-	-	Fu2022 E
GRK4	SP0033860	chr4: 3021634-3021634	C	T	intronic		De novo					-	-	Fu2022 E
GRK4	1-0976-003	chr4: 3043294-3043294	C	T	downstream		De novo					-	-	Yuen2017 G
GRK4	AU4060306	chr4: 3060696-3060696	G	A	intergenic		De novo					-	-	Yuen2017 G
GRK4	1-0059-003	chr4: 2986816-2986816	C	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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