Variant Results

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Results for "EHMT2"

Variant Events: 9

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
EHMT2	Cukier2014:7435	chr6: 31864538-31864538	G	A	exonic		Unknown	nonsynonymous SNV	NM_001289413 NM_006709 NM_025256	c.C344T c.C173T c.C173T	p.S115F p.S58F p.S58F	9.011	0.0181	Cukier2014 E
EHMT2	5-0015-004	chr6: 31863813-31863813	A	G	intronic		De novo					-	-	Yuen2017 G
EHMT2	PN400548	chr6: 31850558-31850558	G	A	exonic		Unknown	nonsynonymous SNV	NM_001289413 NM_025256 NM_006709	c.C3184T c.C3013T c.C3115T	p.R1062W p.R1005W p.R1039W	23.3	-	Leblond2019 E
EHMT2	1-0485-003	chr6: 31864089-31864089	G	A	exonic		De novo	nonsynonymous SNV	NM_001289413 NM_006709 NM_025256	c.C704T c.C533T c.C533T	p.P235L p.P178L p.P178L	16.75	-	Yuen2017 G
EHMT2	PN400517	chr6: 31850558-31850558	G	A	exonic		Unknown	nonsynonymous SNV	NM_001289413 NM_025256 NM_006709	c.C3184T c.C3013T c.C3115T	p.R1062W p.R1005W p.R1039W	23.3	-	Leblond2019 E
EHMT2	2-1261-003	chr6: 31848569-31848569	G	A	exonic		De novo	synonymous SNV	NM_001289413 NM_025256 NM_006709	c.C3402T c.C3231T c.C3333T	p.I1134I p.I1077I p.I1111I	-	-	Yuen2017 G
EHMT2	PN400341	chr6: 31850558-31850558	G	A	exonic		Unknown	nonsynonymous SNV	NM_001289413 NM_025256 NM_006709	c.C3184T c.C3013T c.C3115T	p.R1062W p.R1005W p.R1039W	23.3	-	Leblond2019 E
EHMT2	1-0490-003	chr6: 31850860-31850860	T	A	intronic		De novo					-	-	Yuen2017 G
EHMT2	1-0485-003	chr6: 31861361-31861361	G	A	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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