Variant Results

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Results for "PIK3R2"

Variant Events: 7

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
PIK3R2	SSC05414	chr19: 18273859-18273859	G	A	exonic		De novo	nonsynonymous SNV	NM_005027	c.G1192A	p.V398I	17.91	4.132E-5	Fu2022 E Lim2017 E Trost2022 G
PIK3R2	Wang2023:324	chr19: 18271314-18271314	C	T	exonic		De novo	nonsynonymous SNV	NM_005027	c.C356T	p.S119F	11.28	-	Wang2023 E
PIK3R2	12252.p1	chr19: 18273859-18273859	G	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_005027	c.G1192A	p.V398I	17.91	4.132E-5	Dou2017 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
PIK3R2	MSSNG00418-003	chr19: 18278257-18278257	G	A	intronic		De novo					-	-	Trost2022 G
PIK3R2	SP0171713	chr19: 18279945-18279945	C	A	exonic		De novo	synonymous SNV	NM_005027	c.C2028A	p.G676G	-	-	Trost2022 G
PIK3R2	SMHC01815s000	chr19: 18279284-18279284	G	A	splicing		De novo	splicing				15.14	-	Yuan2023 E
PIK3R2	Mahjani2021:101	chr19: 18277045-18277047	CAA	C	exonic			frameshift deletion	NM_005027	c.1493_1494del	p.Q498fs	-	-	Mahjani2021 E

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Paper Information

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Pubmed
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