Variant Results

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Results for "MARK3"

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
MARK3	DEASD_1010_001	chr14: 103852349-103852349	G	C	UTR5		De novo					-	-	Satterstrom2020 E
MARK3	AU056804	chr14: 103963415-103963415	G	T	intronic		De novo					-	-	Yuen2017 G
MARK3	SSC03016	chr14: 103969422-103969422	C	T	exonic		De novo	nonsynonymous SNV	NM_001128920 NM_001128921 NM_002376 NM_001128919 NM_001128918	c.C2000T c.C1838T c.C2048T c.C2093T c.C2120T	p.A667V p.A613V p.A683V p.A698V p.A707V	10.11	1.656E-5	Lim2017 E
MARK3	12795.p1	chr14: 103968646-103968646	G	A	intronic		De novo					-	-	Turner2016 G
MARK3	AU3875301	chr14: 103853433-103853433	G	A	intronic		De novo					-	-	Yuen2017 G
MARK3	2-1734-003	chr14: 103966573-103966573	G	A	intronic		De novo					-	-	Yuen2017 G
MARK3	A16	chr14: 103958429-103958429	C	T	intronic		De novo					-	-	Wu2018 G
MARK3	11393.p1	chr14: 103969422-103969422	C	T	exonic		De novo	nonsynonymous SNV	NM_001128920 NM_001128921 NM_002376 NM_001128919 NM_001128918	c.C2000T c.C1838T c.C2048T c.C2093T c.C2120T	p.A667V p.A613V p.A683V p.A698V p.A707V	10.11	1.656E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E

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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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