Variant Results

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Results for "RIOX2"

Variant Events: 8

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
RIOX2	111312	chr3: 97664666-97664666	C	A	exonic			nonsynonymous SNV	NM_001042533 NM_001261829 NM_032778 NM_153182	c.G1215T c.G1212T c.G1212T c.G1215T	p.M405I p.M404I p.M404I p.M405I	26.2	3.31E-5	Woodbury-Smith2022 E
RIOX2	MCD-010-3	chr3: 97677992-97677992	T	C	exonic		Maternal	nonsynonymous SNV	NM_001042533 NM_001261829 NM_032778 NM_153182	c.A584G c.A584G c.A584G c.A584G	p.H195R p.H195R p.H195R p.H195R	5.649	4.0E-4	Tuncay2023 G
RIOX2	5-5146-003	chr3: 97671288-97671288	G	A	intronic		De novo					-	-	Trost2022 G
RIOX2	09C80786	chr3: 97673295-97673295	C	T	exonic		De novo	synonymous SNV	NM_001042533 NM_001261829 NM_032778 NM_153182	c.G726A c.G726A c.G726A c.G726A	p.A242A p.A242A p.A242A p.A242A	-	1.656E-5	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RIOX2	mAGRE6021	chr3: 97686367-97686375	AACTTCATC	A	exonic		Maternal	frameshift deletion	NM_001042533 NM_001261829 NM_032778 NM_153182	c.63_70del c.63_70del c.63_70del c.63_70del	p.Q21fs p.Q21fs p.Q21fs p.Q21fs	-	4.0E-4	Cirnigliaro2023 G
RIOX2	AU3302302	chr3: 97686367-97686375	AACTTCATC	A	exonic		Maternal	frameshift deletion	NM_001042533 NM_001261829 NM_032778 NM_153182	c.63_70del c.63_70del c.63_70del c.63_70del	p.Q21fs p.Q21fs p.Q21fs p.Q21fs	-	4.0E-4	Cirnigliaro2023 G
RIOX2	MCD-010-3	chr3: 97686151-97686151	T	C	exonic		Paternal	nonsynonymous SNV	NM_001042533 NM_001261829 NM_032778 NM_153182	c.A287G c.A287G c.A287G c.A287G	p.Y96C p.Y96C p.Y96C p.Y96C	17.22	1.647E-5	Tuncay2023 G
RIOX2	1-0751-003	chr3: 97699451-97699451	C	A	intergenic		De novo					-	-	Yuen2017 G

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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