Variant Results

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Results for "PPM1D"

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
PPM1D	2-1244-003	chr17: 58678679-58678679	G	C	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
PPM1D	M23765	chr17: 58711261-58711261	G	A	exonic		Maternal	nonsynonymous SNV	NM_003620	c.G749A	p.R250Q	31.0	-	Guo2018 T Wang2016 T
PPM1D	12340.p1	chr17: 58740376-58740376	G	A	exonic		De novo	stopgain	NM_003620	c.G1281A	p.W427X	38.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E O’Roak2014 T Satterstrom2020 E Willsey2013 E Zhou2022 GE
PPM1D	220-9961-201	chr17: 58734033-58734033	G	A	exonic		Unknown	nonsynonymous SNV	NM_003620	c.G1091A	p.R364Q	35.0	-	Stessman2017 T
PPM1D	2-1277-003	chr17: 58701178-58701178	A	AT	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PPM1D	5-5024-003	chr17: 58728712-58728712	G	T	intronic		De novo					-	-	Trost2022 G
PPM1D	AU4056301	chr17: 58695523-58695523	G	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PPM1D	Mahjani2021:93	chr17: 58740658-58740658	G	GAA	exonic			frameshift insertion	NM_003620	c.1563_1564insAA	p.M521fs	-	-	Mahjani2021 E
PPM1D	222161	chr17: 58740381-58740382	GG	G	exonic		Inherited	frameshift deletion	NM_003620	c.1287delG	p.R429fs	-	-	Stessman2017 T
PPM1D	SSC04635	chr17: 58740376-58740376	G	A	exonic		De novo	stopgain	NM_003620	c.G1281A	p.W427X	38.0	-	Fu2022 E Lim2017 E Trost2022 G

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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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