Variant Results

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Results for "PSMD2"

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
PSMD2	08C75637	chr3: 184025334-184025334	G	C	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
PSMD2	12358.p1	chr3: 184017111-184017111	G	GG	exonic		De novo	frameshift insertion	NM_002808	c.57dupG	p.A19fs	-	-	Ji2016 E
PSMD2	MSSNG00168-003	chr3: 184019617-184019617	G	A	intronic		De novo					-	2.478E-5	Trost2022 G
PSMD2	111289	chr3: 184017657-184017657	C	T	exonic			nonsynonymous SNV	NM_002808	c.C154T	p.L52F	28.5	1.647E-5	Woodbury-Smith2022 E
PSMD2	AU3053302	chr3: 184023442-184023442	C	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PSMD2	AU058105	chr3: 184029182-184029182	T	C	intergenic		De novo					-	-	Yuen2017 G
PSMD2	2-1178-003	chr3: 184025334-184025334	G	C	intronic		De novo					-	-	Yuen2017 G
PSMD2	14019.p1	chr3: 184025732-184025732	C	T	exonic			nonsynonymous SNV	NM_001278708 NM_001278709 NM_002808	c.C1963T c.C1876T c.C2353T	p.R655W p.R626W p.R785W	24.3	1.647E-5	Zhou2022 GE

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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