Variant Results

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Results for "FMO5"

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
FMO5	12565.p1	chr1: 146672986-146672986	C	G	exonic		De novo	nonsynonymous SNV	NM_001144829 NM_001461	c.G931C c.G931C	p.A311P p.A311P	22.6	4.0E-4	Ji2016 E Krumm2015 E
FMO5	SP0199636	chr1: 146680540-146680540	A	G	exonic		De novo	nonsynonymous SNV	NM_001144830 NM_001144829 NM_001461	c.T704C c.T704C c.T704C	p.L235S p.L235S p.L235S	10.96	-	Trost2022 G Trost2022 G
FMO5	AU2212301	chr1: 146663456-146663456	T	G	intronic		De novo					-	-	Trost2022 G Trost2022 G
FMO5	MSSNG00359-004	chr1: 146704253-146704253	C	T	intergenic		De novo					-	-	Trost2022 G
FMO5	MSSNG00025-003	chr1: 146695985-146695985	A	G	intronic		De novo					-	-	Trost2022 G Trost2022 G
FMO5	mAGRE4198	chr1: 146696540-146696540	C	A	exonic		Paternal	stopgain	NM_001144830 NM_001144829 NM_001461	c.G82T c.G82T c.G82T	p.E28X p.E28X p.E28X	38.0	8.237E-6	Cirnigliaro2023 G
FMO5	2-1514-003	chr1: 146675965-146675965	A	G	intronic		De novo					-	-	Trost2022 G Trost2022 G Yuen2017 G
FMO5	2-1339-003	chr1: 146695315-146695316	GC	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G

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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