Variant Results

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Results for "PADI3"

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
PADI3	NDAR_INVEB022VLQ_wes1	chr1: 17596738-17596738	T	G	exonic		De novo	nonsynonymous SNV	NM_016233	c.T663G	p.D221E	9.129	0.0022	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G
PADI3	mAGRE5023	chr1: 17609340-17609340	G	A	splicing		Maternal	splicing				14.47	-	Cirnigliaro2023 G
PADI3	2-1510-003	chr1: 17587074-17587074	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PADI3	A18	chr1: 17614679-17614679	G	C	intergenic		De novo					-	-	Wu2018 G
PADI3	2-1283-004	chr1: 17615650-17615650	T	C	intergenic		De novo					-	-	Yuen2017 G
PADI3	Cukier2014:17122	chr1: 17596817-17596817	C	T	exonic		Unknown	nonsynonymous SNV	NM_016233	c.C742T	p.R248C	10.84	0.0049	Cukier2014 E
PADI3	AU2495301	chr1: 17609260-17609260	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PADI3	2-1283-003	chr1: 17615650-17615650	T	C	intergenic		De novo					-	-	Yuen2017 G
PADI3	5-5011-003	chr1: 17604473-17604473	G	A	intronic		De novo					-	-	Trost2022 G

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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