Variant Results

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Results for "PLEK2"

Variant Events: 7

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
PLEK2	1-0699-003	chr14: 67908955-67908955	C	T	intergenic		De novo					-	-	Yuen2017 G
PLEK2	mAGRE1692	chr14: 67859496-67859506	GGCCAGGGTCA	G	exonic		Maternal	frameshift deletion	NM_016445	c.542_551del	p.V181fs	-	-	Cirnigliaro2023 G
PLEK2	5-0050-004	chr14: 67862913-67862913	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PLEK2	SP0031215	chr14: 67864512-67864512	C	T	exonic		De novo	stopgain	NM_016445	c.G74A	p.W25X	37.0	-	Fu2022 E Trost2022 G Zhou2022 GE
PLEK2	1-0336-003	chr14: 67862918-67862919	AC	GT	intronic		De novo					-	-	Trost2022 G
PLEK2	iHART1692	chr14: 67859496-67859506	GGCCAGGGTCA	G	exonic		Maternal	frameshift deletion	NM_016445	c.542_551del	p.V181fs	-	-	Ruzzo2019 G
PLEK2	1-0113-003	chr14: 67856299-67856307	ATATATATG	A	intronic		De novo					-	-	Yuen2016 G

Source Variant Information

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Paper Information

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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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