Variant Results

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Results for "MORC3"

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
MORC3	MT_34.3	chr21: 37708265-37708265	C	T	intronic		De novo					-	-	Trost2022 G
MORC3	MSSNG00361-004	chr21: 37708224-37708224	C	CT	intronic		De novo					-	-	Trost2022 G
MORC3	SSC11493	chr21: 37744772-37744774	CAG	C	exonic			frameshift deletion	NM_015358	c.2610_2611del	p.T870fs	-	-	Antaki2022 GE
MORC3	PN400128	chr21: 37732302-37732302	C	T	exonic		Unknown, De novo	nonsynonymous SNV	NM_015358	c.C1258T	p.R420W	20.4	-	Leblond2019 E Leblond2019 E
MORC3	7-0253-005	chr21: 37741381-37741381	A	G	exonic		De novo	nonsynonymous SNV	NM_015358	c.A1715G	p.D572G	13.9	-	Trost2022 G Yuen2017 G Zhou2022 GE
MORC3	11572.p1	chr21: 37708742-37708742	A	C	intronic		De novo					-	-	Turner2016 G
MORC3	2-0028-003	chr21: 37699031-37699031	A	G	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
MORC3	14310.p1	chr21: 37744772-37744774	CAG	C	exonic		De novo	frameshift deletion	NM_015358	c.2610_2611del	p.T870fs	-	-	Dong2014 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
MORC3	NDAR_INVCD337RRG_wes1	chr21: 37711086-37711086	T	G	exonic		De novo	nonsynonymous SNV	NM_015358	c.T475G	p.L159V	10.4	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
MORC3	14310_p1	chr21: 37744772-37744774	CAG	C	exonic		De novo	frameshift deletion	NM_015358	c.2610_2611del	p.T870fs	-	-	Fu2022 E

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Paper Information

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