Variant Results

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Results for "DAG1"

Variant Events: 4

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
DAG1	10C108663	chr3: 49570115-49570115	C	T	exonic		De novo	nonsynonymous SNV	NM_001177639 NM_001177643 NM_001177644 NM_004393 NM_001177635 NM_001177637 NM_001177638 NM_001177640 NM_001177641 NM_001177642 NM_001177636 NM_001165928 NM_001177634	c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T	p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L	10.87	-	Neale2012 E
DAG1	1360JS0033	chr3: 49570115-49570115	C	T	exonic		De novo	nonsynonymous SNV	NM_001177639 NM_001177643 NM_001177644 NM_004393 NM_001177635 NM_001177637 NM_001177638 NM_001177640 NM_001177641 NM_001177642 NM_001177636 NM_001165928 NM_001177634	c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T c.C2171T	p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L p.P724L	10.87	-	DeRubeis2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
DAG1	13065.p1	chr3: 49570350-49570350	C	T	exonic		De novo	synonymous SNV	NM_001177639 NM_001177643 NM_001177644 NM_004393 NM_001177635 NM_001177637 NM_001177638 NM_001177640 NM_001177641 NM_001177642 NM_001177636 NM_001165928 NM_001177634	c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T c.C2406T	p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D p.D802D	-	1.0E-4	Satterstrom2020 E
DAG1	12418.p1	chr3: 49569736-49569736	C	T	exonic		De novo	nonsynonymous SNV	NM_001177639 NM_001177643 NM_001177644 NM_004393 NM_001177635 NM_001177637 NM_001177638 NM_001177640 NM_001177641 NM_001177642 NM_001177636 NM_001165928 NM_001177634	c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T c.C1792T	p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C p.R598C	14.26	8.289E-6	Ji2016 E Krumm2015 E Lim2017 E Wilfert2021 G

Source Variant Information

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Paper Information

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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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