Variant Results

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Results for "LRFN3"

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
LRFN3	AU3849302	chr19: 36461708-36461708	A	C	intergenic		De novo					-	-	Yuen2017 G
LRFN3	11977.p1	chr19: 36430600-36430600	G	A	exonic			synonymous SNV	NM_024509	c.G273A	p.S91S	-	5.437E-5	Zhou2022 GE
LRFN3	11978.p1	chr19: 36431609-36431609	G	A	exonic		Mosaic	nonsynonymous SNV	NM_024509	c.G1282A	p.D428N	11.1	2.514E-5	Dou2017 E
LRFN3	1-0130-003	chr19: 36431517-36431517	G	C	exonic		De novo	nonsynonymous SNV	NM_024509	c.G1190C	p.C397S	6.769	-	Yuen2015 G Zhou2022 GE
LRFN3	DEASD_1056_001	chr19: 36431006-36431006	C	T	exonic		De novo	nonsynonymous SNV	NM_024509	c.C679T	p.R227C	16.88	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
LRFN3	AU3760302	chr19: 36480202-36480202	A	G	intergenic		De novo					-	-	Yuen2017 G
LRFN3	1-0859-003	chr19: 36427979-36427979	C	G	upstream		De novo					-	-	Trost2022 G
LRFN3	SP0163859	chr19: 36431358-36431358	G	A	exonic		De novo	nonsynonymous SNV	NM_024509	c.G1031A	p.R344H	13.53	1.067E-5	Trost2022 G
LRFN3	AU4153301	chr19: 36465627-36465627	T	C	intergenic		De novo					-	-	Yuen2017 G
LRFN3	SP0060430	chr19: 36431030-36431030	C	T	exonic		De novo	nonsynonymous SNV	NM_024509	c.C703T	p.R235W	13.39	1.799E-5	Fu2022 E Trost2022 G Zhou2022 GE

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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