Variant Results

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Results for "PADI1"

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
PADI1	iHART2564	chr1: 17555441-17555441	A	G	splicing		Maternal	splicing				14.99	-	Ruzzo2019 G
PADI1	mAGRE2565	chr1: 17555441-17555441	A	G	splicing		Maternal	splicing				14.99	-	Cirnigliaro2023 G
PADI1	mAGRE2564	chr1: 17555441-17555441	A	G	splicing		Maternal	splicing				14.99	-	Cirnigliaro2023 G
PADI1	iHART2565	chr1: 17555441-17555441	A	G	splicing		Maternal	splicing				14.99	-	Ruzzo2019 G
PADI1	GM180938	chr1: 17550983-17550983	C	T	intronic		De novo					-	-	Fu2022 E
PADI1	SP0006219	chr1: 17556659-17556659	A	T	exonic		De novo	nonsynonymous SNV	NM_013358	c.A1009T	p.T337S	10.66	-	Feliciano2019 E Trost2022 G Zhou2022 GE
PADI1	SP0232582	chr1: 17559403-17559403	C	T	exonic		De novo	synonymous SNV	NM_013358	c.C1251T	p.P417P	-	5.518E-5	Trost2022 G
PADI1	MT_184.3	chr1: 17548009-17548009	G	A	intronic		De novo					-	-	Trost2022 G
PADI1	NDAR_INVNB971TGY_wes1	chr1: 17531782-17531782	G	A	exonic		De novo	nonsynonymous SNV	NM_013358	c.G70A	p.E24K	10.17	3.0E-4	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE

Source Variant Information

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Paper Information

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