Variant Results

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Results for "PLEKHH1"

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
PLEKHH1	1-0433-003	chr14: 68005871-68005871	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PLEKHH1	SP0130874	chr14: 68028815-68028815	C	T	intronic		De novo					-	3.421E-5	Fu2022 E Trost2022 G
PLEKHH1	SP0077302	chr14: 68029244-68029244	C	A	exonic		De novo	nonsynonymous SNV	NM_020715	c.C896A	p.T299N	7.829	-	Fu2022 E Trost2022 G Zhou2022 GE
PLEKHH1	SJD_66.3	chr14: 68003238-68003238	T	C	intronic		De novo					-	-	Trost2022 G
PLEKHH1	SP0213481	chr14: 68050762-68050762	C	G	exonic		De novo	nonsynonymous SNV	NM_020715	c.C3620G	p.S1207C	20.2	-	Trost2022 G
PLEKHH1	1-0387-003	Complex Event; expand row to view variants					De novo					-	-	Yuen2016 G Yuen2017 G
PLEKHH1	2-1281-003	chr14: 68026896-68026896	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PLEKHH1	2-1406-003	chr14: 68053177-68053177	C	T	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G Zhou2022 GE
PLEKHH1	mAGRE1848	chr14: 68043197-68043201	TGATG	T	exonic		Maternal	frameshift deletion	NM_020715	c.2439_2442del	p.L813fs	-	-	Cirnigliaro2023 G
PLEKHH1	iHART1848	chr14: 68043197-68043201	TGATG	T	exonic		Maternal	frameshift deletion	NM_020715	c.2439_2442del	p.L813fs	-	-	Ruzzo2019 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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