Variant Results

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Results for "MDM2"

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
MDM2	Lim2017:4893	chr12: 69233432-69233432	G	A	exonic		De novo	nonsynonymous SNV	NM_001145340 NM_001278462 NM_001145339 NM_001145337 NM_002392	c.G691A c.G769A c.G1132A c.G1138A c.G1297A	p.E231K p.E257K p.E378K p.E380K p.E433K	14.92	-	Lim2017 E
MDM2	7-0059-003	chr12: 69203948-69203948	C	T	intronic		De novo					-	-	Yuen2017 G
MDM2	11947.p1	chr12: 69233432-69233432	G	A	exonic		De novo	nonsynonymous SNV	NM_001145340 NM_001278462 NM_001145339 NM_001145337 NM_002392	c.G691A c.G769A c.G1132A c.G1138A c.G1297A	p.E231K p.E257K p.E378K p.E380K p.E433K	14.92	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G
MDM2	NDAR_INVWL738LDP_wes1	chr12: 69210702-69210702	A	C	exonic		De novo	synonymous SNV	NM_001145337 NM_001145339 NM_002392	c.A267C c.A285C c.A285C	p.P89P p.P95P p.P95P	-	-	DeRubeis2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E

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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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