Variant Results

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Results for "PLA2G6"

Variant Events: 9

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
PLA2G6	AU3716301	chr22: 38562374-38562374	G	A	intronic		De novo					-	-	Yuen2017 G
PLA2G6	CC1074_202	chr22: 38511690-38511690	T	C	splicing		De novo	splicing				15.31	-	Fu2022 E
PLA2G6	2-1251-003	chr22: 38596746-38596746	C	T	intergenic		De novo					-	-	Yuen2017 G
PLA2G6	SP0128256	chr22: 38508635-38508635	G	A	intronic		De novo					-	7.442E-5	Fu2022 E
PLA2G6	SP0074180	chr22: 38522455-38522455	T	G	exonic		De novo	nonsynonymous SNV	NM_001004426 NM_001199562 NM_003560	c.A1188C c.A1188C c.A1350C	p.Q396H p.Q396H p.E450D	8.517	-	Fu2022 E
PLA2G6	G01-GEA-110-HI	chr22: 38524366-38524366	C	T	exonic		De novo	nonsynonymous SNV	NM_003560	c.G1258A	p.G420R	11.07	1.659E-5	Lim2017 E
PLA2G6	Hu2022:47	chr22: 38528924-38528924	C	A	exonic		Unknown	nonsynonymous SNV	NM_001004426 NM_001199562 NM_003560	c.G991T c.G991T c.G991T	p.D331Y p.D331Y p.D331Y	25.9	4.752E-5	Hu2022 T
PLA2G6	DEASD_0029_001	chr22: 38541546-38541561	CTGCAGGACCTCAGTG	C	exonic		De novo	nonframeshift deletion	NM_001004426 NM_001199562 NM_003560	c.309_323del c.309_323del c.309_323del	p.103_108del p.103_108del p.103_108del	-	-	Fu2022 E Satterstrom2020 E
PLA2G6	Hu2022:47	chr22: 38516880-38516880	C	T	exonic		Unknown	nonsynonymous SNV	NM_001004426 NM_001199562 NM_003560	c.G1466A c.G1466A c.G1628A	p.R489H p.R489H p.R543H	23.1	3.309E-5	Hu2022 T

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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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