Variant Results

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Results for "PPP2R2D"

Variant Events: 6

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
PPP2R2D	11504.p1	chr10: 133761014-133761019	CATTTT	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
PPP2R2D	AU0039303	chr10: 133774081-133774081	A	C	downstream		De novo					-	-	Yuen2017 G
PPP2R2D	1-0560-003	chr10: 133758535-133758535	A	G	intronic		De novo					-	-	Yuen2017 G
PPP2R2D	Codina-Sola2015:ASD_32	chr10: 133769285-133769285	C	T	exonic		Maternal	nonsynonymous SNV	NM_001291310	c.C685T	p.P229S	10.72	2.577E-5	Codina-Sola2015 E
PPP2R2D	SP0139153	chr10: 133761290-133761290	G	A	exonic		De novo	synonymous SNV	NM_001291310	c.G582A	p.S194S	13.35	-	Fu2022 E
PPP2R2D	SP0059607	chr10: 133757605-133757605	T	G	exonic		De novo	nonsynonymous SNV	NM_001291310	c.T116G	p.L39R	21.5	-	Fu2022 E

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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