Variant Results

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Results for "PLEKHG5"

Variant Events: 10

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
PLEKHG5	SP0033073	chr1: 6545613-6545613	G	C	intronic		De novo					-	-	Fu2022 E
PLEKHG5	SP0021875	chr1: 6533162-6533162	G	A	exonic		De novo	nonsynonymous SNV	NM_001042664 NM_001042665 NM_001265593 NM_001265594 NM_020631 NM_001042663 NM_001265592 NM_198681	c.C868T c.C868T c.C1075T c.C868T c.C868T c.C1036T c.C1105T c.C1099T	p.R290W p.R290W p.R359W p.R290W p.R290W p.R346W p.R369W p.R367W	19.66	8.303E-6	Fu2022 E
PLEKHG5	A12	chr1: 6531616-6531616	C	T	exonic		De novo	nonsynonymous SNV	NM_001042664 NM_001042665 NM_001265593 NM_001265594 NM_020631 NM_001042663 NM_001265592 NM_198681	c.G1213A c.G1213A c.G1420A c.G1213A c.G1213A c.G1381A c.G1450A c.G1444A	p.V405M p.V405M p.V474M p.V405M p.V405M p.V461M p.V484M p.V482M	10.95	-	Wu2018 G
PLEKHG5	2-1318-004	chr1: 6531081-6531081	C	T	exonic		De novo	nonsynonymous SNV	NM_001042664 NM_001042665 NM_001265593 NM_001265594 NM_020631 NM_001042663 NM_001265592 NM_198681	c.G1361A c.G1361A c.G1568A c.G1361A c.G1361A c.G1529A c.G1598A c.G1592A	p.R454H p.R454H p.R523H p.R454H p.R454H p.R510H p.R533H p.R531H	18.65	-	Yuen2017 G
PLEKHG5	74-0481	chr1: 6530645-6530645	T	C	exonic		Inherited	nonsynonymous SNV	NM_001042664 NM_001042665 NM_001265593 NM_001265594 NM_020631 NM_001042663 NM_001265592 NM_198681	c.A1601G c.A1601G c.A1808G c.A1601G c.A1601G c.A1769G c.A1838G c.A1832G	p.E534G p.E534G p.E603G p.E534G p.E534G p.E590G p.E613G p.E611G	26.9	-	Patowary2019 E
PLEKHG5	72-1921	chr1: 6530645-6530645	T	C	exonic		Inherited	nonsynonymous SNV	NM_001042664 NM_001042665 NM_001265593 NM_001265594 NM_020631 NM_001042663 NM_001265592 NM_198681	c.A1601G c.A1601G c.A1808G c.A1601G c.A1601G c.A1769G c.A1838G c.A1832G	p.E534G p.E534G p.E603G p.E534G p.E534G p.E590G p.E613G p.E611G	26.9	-	Patowary2019 E
PLEKHG5	Li2017:17694	chr1: 6527894-6527894	A	G	exonic		Unknown	nonsynonymous SNV	NM_001042664 NM_001042665 NM_001265593 NM_020631 NM_001042663 NM_001265592 NM_198681	c.T3002C c.T3002C c.T3209C c.T3002C c.T3170C c.T3239C c.T3233C	p.L1001P p.L1001P p.L1070P p.L1001P p.L1057P p.L1080P p.L1078P	22.7	-	Li2017 T
PLEKHG5	5-0042-003	chr1: 6544748-6544748	A	T	intronic		De novo					-	-	Yuen2017 G
PLEKHG5	A4	chr1: 6533312-6533312	C	T	exonic		De novo	nonsynonymous SNV	NM_001042664 NM_001042665 NM_001265593 NM_001265594 NM_020631 NM_001042663 NM_001265592 NM_198681	c.G794A c.G794A c.G1001A c.G794A c.G794A c.G962A c.G1031A c.G1025A	p.R265Q p.R265Q p.R334Q p.R265Q p.R265Q p.R321Q p.R344Q p.R342Q	24.4	-	Wu2018 G
PLEKHG5	Li2017:23067	chr1: 6537675-6537675	G	A	exonic		Unknown	nonsynonymous SNV	NM_001265593 NM_001042663 NM_001265592 NM_198681	c.C164T c.C125T c.C194T c.C188T	p.P55L p.P42L p.P65L p.P63L	26.4	-	Li2017 T

Source Variant Information

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Paper Information

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