Variant Results

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Results for "ACAD9"

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
ACAD9	2-1720-003	chr3: 128657195-128657195	A	T	intergenic		De novo					-	-	Yuen2017 G
ACAD9	AU2100302	chr3: 128640910-128640910	C	T	intergenic		De novo					-	-	Yuen2017 G
ACAD9	1-0222-003	chr3: 128683763-128683772	ATTTTGTTTT	ATTTT	intergenic		De novo					-	-	Yuen2017 G
ACAD9	SP0089836	chr3: 128598807-128598807	G	C	intronic		De novo					-	-	Fu2022 E
ACAD9	SP0093358	chr3: 128634030-128634030	A	C	intergenic		De novo					19.93	-	Fu2022 E
ACAD9	SP0064614	chr3: 128622889-128622889	C	T	intronic		De novo					-	-	Fu2022 E
ACAD9	SP0146017	chr3: 128618325-128618325	C	T	intronic		De novo					-	5.028E-5	Fu2022 E
ACAD9	133343	chr3: 128618292-128618292	C	T	exonic			nonsynonymous SNV	NM_014049	c.C796T	p.R266W	20.8	1.651E-5	Woodbury-Smith2022 E
ACAD9	AGG0052	chr3: 128664050-128664050	G	A	intergenic		De novo					11.44	7.486E-5	Fu2022 E Satterstrom2020 E

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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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