Variant Results

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Results for "LRRC4"

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
LRRC4	2-1295-003	chr7: 127670456-127670456	G	C	exonic		De novo	nonsynonymous SNV	NM_022143	c.C238G	p.L80V	18.92	-	Jiang2013 G Yuen2016 G Yuen2017 G Zhou2022 GE
LRRC4	Viggiano2022:22.3	chr7: 127670965-127670965	C	T	splicing		Paternal	splicing				-	-	Viggiano2022 GT
LRRC4	262-09-111494	chr7: 127669999-127669999	T	G	exonic		De novo	nonsynonymous SNV	NM_022143	c.A695C	p.E232A	2.97	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
LRRC4	09C99832	chr7: 127670456-127670456	G	C	exonic		De novo	nonsynonymous SNV	NM_022143	c.C238G	p.L80V	18.92	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
LRRC4	ASC_3B574	chr7: 127670197-127670197	G	T	exonic		De novo	nonsynonymous SNV	NM_022143	c.C497A	p.A166D	19.88	-	Fu2022 E
LRRC4	SP0139178	chr7: 127669506-127669506	G	A	exonic		De novo	synonymous SNV	NM_022143	c.C1188T	p.S396S	-	8.242E-6	Fu2022 E Trost2022 G Trost2022 G Zhou2022 GE
LRRC4	Viggiano2022:22.4	chr7: 127670965-127670965	C	T	splicing		Paternal	splicing				-	-	Viggiano2022 GT
LRRC4	NDAR_INVNW486HX4_wes1	chr7: 127670682-127670684	CAA	C	exonic		De novo	frameshift deletion	NM_022143	c.10_11del	p.L4fs	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
LRRC4	Viggiano2022:105.3	chr7: 127670965-127670965	C	T	splicing		De novo	splicing				-	-	Viggiano2022 GT

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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