Variant Results

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Results for "LDLR"

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
LDLR	3-0223-000	chr19: 11213417-11213417	G	A	exonic		De novo	nonsynonymous SNV	NM_000527 NM_001195798 NM_001195800 NM_001195803	c.G268A c.G268A c.G268A c.G268A	p.D90N p.D90N p.D90N p.D90N	23.1	4.942E-5	Tammimies2015 E
LDLR	AU4479301	chr19: 11228632-11228632	G	A	intronic		De novo					-	-	Yuen2017 G
LDLR	12317.p1	chr19: 11230897-11230897	A	C	exonic		De novo	nonsynonymous SNV	NM_001195800 NM_001195799 NM_001195803 NM_000527 NM_001195798	c.A1471C c.A1852C c.A1594C c.A1975C c.A1975C	p.T491P p.T618P p.T532P p.T659P p.T659P	8.593	2.0E-4	Satterstrom2020 E
LDLR	EGAN00001101197	chr19: 11222242-11222242	G	A	exonic		De novo	synonymous SNV	NM_001195800 NM_001195799 NM_001195803 NM_000527 NM_001195798	c.G609A c.G990A c.G732A c.G1113A c.G1113A	p.L203L p.L330L p.L244L p.L371L p.L371L	-	-	Fu2022 E Satterstrom2020 E
LDLR	Torti2019:10a	chr19: 11230819-11230819	C	T	exonic		Maternal	nonsynonymous SNV	NM_001195800 NM_001195799 NM_001195803 NM_000527 NM_001195798	c.C1393T c.C1774T c.C1516T c.C1897T c.C1897T	p.R465C p.R592C p.R506C p.R633C p.R633C	14.24	-	Torti2019 T
LDLR	1-0175-003	chr19: 11243015-11243015	G	A	UTR3		De novo					-	-	Yuen2017 G
LDLR	12733.p1	chr19: 11233938-11233938	C	T	exonic		De novo	synonymous SNV	NM_001195800 NM_001195803 NM_001195799 NM_000527 NM_001195798	c.C1725T c.C1695T c.C2106T c.C2229T c.C2229T	p.T575T p.T565T p.T702T p.T743T p.T743T	-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
LDLR	1-0175-004	chr19: 11243015-11243015	G	A	UTR3		De novo					-	-	Yuen2017 G
LDLR	Torti2019:10b	chr19: 11230819-11230819	C	T	exonic		Maternal	nonsynonymous SNV	NM_001195800 NM_001195799 NM_001195803 NM_000527 NM_001195798	c.C1393T c.C1774T c.C1516T c.C1897T c.C1897T	p.R465C p.R592C p.R506C p.R633C p.R633C	14.24	-	Torti2019 T
LDLR	SSC05872	chr19: 11233938-11233938	C	T	exonic		De novo	synonymous SNV	NM_001195800 NM_001195803 NM_001195799 NM_000527 NM_001195798	c.C1725T c.C1695T c.C2106T c.C2229T c.C2229T	p.T575T p.T565T p.T702T p.T743T p.T743T	-	-	Fu2022 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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