Variant Results

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Results for "LRP3"

Variant Events: 9

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
LRP3	12795.p1	chr19: 33685333-33685333	C	T	upstream		De novo					-	-	Turner2016 G
LRP3	iHART1237	chr19: 33698166-33698166	G	GC	exonic		Paternal	frameshift insertion	NM_002333	c.1999dupC	p.R666fs	-	-	Ruzzo2019 G
LRP3	11089.p1	chr19: 33685333-33685333	C	T	upstream		De novo					-	-	Turner2016 G
LRP3	236-11-114142	chr19: 33696797-33696797	C	T	exonic		De novo	nonsynonymous SNV	NM_002333	c.C1121T	p.P374L	14.9	3.446E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
LRP3	GEA466	chr19: 33697160-33697160	G	A	exonic		De novo	nonsynonymous SNV	NM_002333	c.G1484A	p.R495H	26.6	2.994E-5	Fu2022 E
LRP3	PN400149	chr19: 33696920-33696920	C	T	exonic		De novo	nonsynonymous SNV	NM_002333	c.C1244T	p.A415V	14.13	-	Leblond2019 E
LRP3	mAGRE1237	chr19: 33698166-33698166	G	GC	exonic		Paternal	frameshift insertion	NM_002333	c.1999dupC	p.R666fs	-	-	Cirnigliaro2023 G
LRP3	SP0136959	chr19: 33695583-33695583	C	T	exonic		De novo	synonymous SNV	NM_002333	c.C300T	p.S100S	-	-	Fu2022 E Zhou2022 GE
LRP3	PN400341	chr19: 33695635-33695635	C	T	exonic		Unknown	nonsynonymous SNV	NM_002333	c.C352T	p.R118C	17.35	8.282E-6	Leblond2019 E

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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