Variant Results

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Results for "PLEKHA4"

Variant Events: 8

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
PLEKHA4	SP0016459	chr19: 49348669-49348669	G	A	exonic		De novo	synonymous SNV	NM_001161354 NM_020904	c.C1626T c.C1701T	p.S542S p.S567S	-	1.0E-4	Feliciano2019 E Fu2022 E
PLEKHA4	SSC05911	chr19: 49341342-49341342	C	T	exonic		De novo	nonsynonymous SNV	NM_020904	c.G2009A	p.R670Q	15.94	-	Lim2017 E
PLEKHA4	13168.p1	chr19: 49348718-49348718	C	T	intronic		De novo					-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
PLEKHA4	2-0219-004	chr19: 49367761-49367762	CA	C	intronic		De novo					-	-	Yuen2017 G
PLEKHA4	7-0127-003	chr19: 49360198-49360198	A	AAAAG	intronic		De novo					-	-	Yuen2017 G
PLEKHA4	12865.p1	chr19: 49341342-49341342	C	T	exonic		Mosaic, De novo	nonsynonymous SNV	NM_020904	c.G2009A	p.R670Q	15.94	-	Dou2017 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E
PLEKHA4	P1100	chr19: 49355561-49355561	G	A	exonic		De novo	nonsynonymous SNV	NM_001161354 NM_020904	c.C1274T c.C1349T	p.T425M p.T450M	15.16	8.24E-6	Hashimoto2016 E
PLEKHA4	AU002903	chr19: 49371335-49371337	CTT	CTTT	intronic		De novo					-	-	Yuen2017 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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