Variant Results

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Results for "MARK1"

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
MARK1	10C116616	chr1: 220835211-220835211	G	A	exonic		De novo	synonymous SNV	NM_001286128 NM_001286126 NM_001286124 NM_018650	c.G1980A c.G2046A c.G2094A c.G2091A	p.P660P p.P682P p.P698P p.P697P	-	1.678E-5	DeRubeis2014 E Kosmicki2017 E Satterstrom2020 E
MARK1	1-0265-003	chr1: 220849862-220849862	G	A	intergenic		De novo					-	-	Yuen2017 G
MARK1	552-06-107496	chr1: 220835285-220835287	GAA	G	exonic		De novo	frameshift deletion	NM_001286128 NM_001286126 NM_001286124 NM_018650	c.2055_2056del c.2121_2122del c.2169_2170del c.2166_2167del	p.R685fs p.R707fs p.R723fs p.R722fs	-	-	Satterstrom2020 E
MARK1	1-0296-003	chr1: 220749347-220749347	C	CTCCTTCCT	intronic		De novo					-	-	Yuen2017 G
MARK1	1-0265-004	chr1: 220849862-220849862	G	A	intergenic		De novo					-	-	Yuen2017 G
MARK1	1-0043-003	chr1: 220808660-220808660	T	C	intronic		De novo					-	-	Yuen2017 G
MARK1	AU3790301	chr1: 220817042-220817042	A	T	intronic		De novo					-	-	Yuen2017 G
MARK1	2-1365-003	chr1: 220839894-220839894	G	T	intergenic		De novo					-	-	Yuen2017 G
MARK1	AU3997302	chr1: 220784448-220784448	G	A	intronic		De novo					-	-	Yuen2017 G
MARK1	3-0215-000	chr1: 220835359-220835359	G	A	exonic		De novo	nonsynonymous SNV	NM_001286128 NM_001286126 NM_001286124 NM_018650	c.G2128A c.G2194A c.G2242A c.G2239A	p.A710T p.A732T p.A748T p.A747T	20.4	2.0E-4	Tammimies2015 E

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Paper Information

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