Variant Results

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Results for "PDIK1L"

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
PDIK1L	08C76999	chr1: 26448790-26448790	A	G	exonic		De novo	nonsynonymous SNV	NM_001243532 NM_152835 NM_001243533	c.A748G c.A748G c.A748G	p.M250V p.M250V p.M250V	16.13	1.648E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
PDIK1L	NDAR_INVZT109BL0_wes1	chr1: 26449034-26449034	A	G	exonic		De novo	nonsynonymous SNV	NM_001243532 NM_152835 NM_001243533	c.A992G c.A992G c.A992G	p.Q331R p.Q331R p.Q331R	12.59	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
PDIK1L	08C77057	chr1: 26448529-26448529	C	T	exonic		De novo	stopgain	NM_001243532 NM_152835 NM_001243533	c.C487T c.C487T c.C487T	p.R163X p.R163X p.R163X	36.0	8.237E-6	Fu2022 E
PDIK1L	2-1460-003	chr1: 26470256-26470256	G	A	intergenic		De novo					-	-	Yuen2017 G
PDIK1L	Wang2023:163	chr1: 26449021-26449021	C	T	exonic		De novo	nonsynonymous SNV	NM_001243532 NM_152835 NM_001243533	c.C979T c.C979T c.C979T	p.L327F p.L327F p.L327F	13.61	-	Wang2023 E
PDIK1L	3-0067-000	chr1: 26449128-26449128	A	G	UTR3		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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