Variant Results

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Results for "PLPBP"

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
PLPBP	13514.p1	chr8: 37623828-37623828	C	A	exonic		Mosaic	nonsynonymous SNV	NM_007198	c.C274A	p.H92N	26.7	-	Krupp2017 E
PLPBP	14073.p1	chr8: 37632819-37632819	C	T	intronic		Mosaic					-	-	Dou2017 E
PLPBP	133339	chr8: 37633520-37633520	G	A	exonic			nonsynonymous SNV	NM_007198	c.G682A	p.D228N	36.0	-	Woodbury-Smith2022 E
PLPBP	SP0058437	chr8: 37635587-37635587	G	T	exonic			nonsynonymous SNV	NM_007198	c.G793T	p.V265L	1.145	-	Zhou2022 GE
PLPBP	5-0065-003	chr8: 37635385-37635385	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PLPBP	2-0238-004	chr8: 37630385-37630385	G	T	exonic		De novo	nonsynonymous SNV	NM_007198	c.G432T	p.Q144H	20.1	-	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE
PLPBP	5-0050-004	chr8: 37624552-37624552	A	G	intronic		De novo					-	-	Trost2022 G
PLPBP	4-0064-003	chr8: 37635033-37635033	A	G	intronic		De novo					-	-	Trost2022 G
PLPBP	2-0012-004	chr8: 37622219-37622222	GTTA	G	intronic		De novo					-	-	Trost2022 G
PLPBP	5-0050-004	chr8: 37624544-37624544	A	G	intronic		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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