Variant Results

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Results for "ROBO3"

Variant Events: 6

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
ROBO3	1-0486-003	chr11: 124746220-124746220	G	A	exonic		De novo	synonymous SNV	NM_022370	c.G2643A	p.A881A	-	-	Trost2022 G Yuen2017 G Zhou2022 GE
ROBO3	AU4072303	chr11: 124750724-124750724	C	T	intronic		De novo					-	-	Yuen2017 G
ROBO3	12821.p1	chr11: 124747997-124747997	G	A	exonic		De novo	nonsynonymous SNV	NM_022370	c.G3151A	p.A1051T	17.61	9.839E-6	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
ROBO3	MT_69	chr11: 124740181-124740181	G	A	exonic		Maternal	nonsynonymous SNV	NM_022370	c.G887A	p.G296E	25.2	-	Toma2013 E
ROBO3	SSC05931	chr11: 124747997-124747997	G	A	exonic		De novo	nonsynonymous SNV	NM_022370	c.G3151A	p.A1051T	17.61	9.839E-6	Lim2017 E Trost2022 G
ROBO3	G01-GEA-169-HI	chr11: 124743745-124743745	A	G	exonic		De novo	nonsynonymous SNV	NM_022370	c.A1771G	p.I591V	16.36	-	Fu2022 E Lim2017 E Satterstrom2020 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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