Variant Results

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Results for "PSMD6"

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
PSMD6	2-1444-003	chr3: 64050707-64050707	T	G	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
PSMD6	3-0393-000	chr3: 63996422-63996422	C	T	exonic		De novo	stopgain	NM_001271780 NM_001271781 NM_014814 NM_001271779	c.G978A c.G975A c.G1092A c.G1251A	p.W326X p.W325X p.W364X p.W417X	37.0	-	Tammimies2015 E
PSMD6	AU1933302	chr3: 64027424-64027424	G	A	intergenic		De novo					-	-	Yuen2017 G
PSMD6	EGAN00001101049	chr3: 64005096-64005096	G	A	exonic		De novo	nonsynonymous SNV	NM_001271780 NM_001271781 NM_014814 NM_001271779	c.C259T c.C256T c.C373T c.C532T	p.R87C p.R86C p.R125C p.R178C	25.2	1.648E-5	Fu2022 E Satterstrom2020 E
PSMD6	147-06-105672	chr3: 64008429-64008429	G	C	exonic		De novo	nonsynonymous SNV	NM_001271779	c.C194G	p.S65C	11.85	-	Fu2022 E Satterstrom2020 E
PSMD6	SP0031206	chr3: 64009116-64009116	C	A	UTR5		De novo					-	-	Fu2022 E
PSMD6	AU2863302	chr3: 64041759-64041759	G	T	intergenic		De novo					-	-	Yuen2017 G
PSMD6	2-0145-003	chr3: 64040016-64040016	G	A	intergenic		De novo					-	-	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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