Variant Results

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Results for "Yamamoto2019"

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
CACNA1A	Yamamoto2019:2	chr19: 13341007-13341007	A	G	exonic		De novo	nonsynonymous SNV	NM_001127221 NM_001127222	c.T5420C c.T5417C	p.V1807A p.V1806A	17.12	-	Yamamoto2019 T
CHD2	Yamamoto2019:3	chr15: 93541774-93541774	C	T	exonic		De novo	stopgain	NM_001271	c.C3931T	p.Q1311X	48.0	-	Yamamoto2019 T
ACTG1	Yamamoto2019:1	chr17: 79478388-79478388	G	C	exonic		De novo	nonsynonymous SNV	NM_001199954 NM_001614	c.C628G c.C628G	p.R210G p.R210G	14.58	-	Yamamoto2019 T
DNMT3A	Yamamoto2019:7	chr2: 25469088-25469089	GG	G	exonic		De novo	frameshift deletion	NM_153759 NM_022552 NM_175629	c.802delC c.1369delC c.1369delC	p.P268fs p.P457fs p.P457fs	-	-	Yamamoto2019 T
EHMT1	Yamamoto2019:8	chr9: 140708886-140708886	T	C	exonic		De novo	nonsynonymous SNV	NM_024757	c.T3184C	p.C1062R	18.01	-	Yamamoto2019 T
CHD2	Yamamoto2019:4	chr15: 93485051-93485051	G	T	splicing		De novo	splicing				23.9	-	Yamamoto2019 T
CDKL5	Yamamoto2019:5	chrX: 18627017-18627018	AC	A	exonic		De novo	frameshift deletion	NM_003159 NM_001037343	c.2032delC c.2032delC	p.R678fs p.R678fs	-	-	Yamamoto2019 T
KDM5C	Yamamoto2019:13	chrX: 53243999-53243999	G	A	exonic		Maternal	stopgain	NM_001146702 NM_001282622 NM_004187	c.C793T c.C991T c.C994T	p.R265X p.R331X p.R332X	43.0	-	Yamamoto2019 T
GABRB3	Yamamoto2019:9	chr15: 26806308-26806308	A	G	exonic		De novo	nonsynonymous SNV	NM_001191320 NM_001191321 NM_000814 NM_021912 NM_001278631	c.T596C c.T638C c.T851C c.T851C c.T596C	p.L199P p.L213P p.L284P p.L284P p.L199P	21.5	-	Yamamoto2019 T
GRIN2B	Yamamoto2019:11	chr12: 13720107-13720107	T	C	exonic		De novo	nonsynonymous SNV	NM_000834	c.A2450G	p.N817S	26.4	-	Yamamoto2019 T

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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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