Variant Results

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Results for "USP3"

Variant Events: 10

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
USP3	13931.p1	chr15: 63855218-63855218	T	C	intronic		De novo					-	-	Krumm2015 E Satterstrom2020 E
USP3	1-0139-005	chr15: 63842012-63842012	G	T	intronic		De novo					-	-	Yuen2017 G
USP3	113-07-107909	chr15: 63866224-63866224	C	T	intronic		De novo					-	-	Satterstrom2020 E
USP3	3-0409-000	chr15: 63824890-63824890	A	G	exonic		De novo	nonsynonymous SNV	NM_001256702 NM_006537	c.A136G c.A136G	p.S46G p.S46G	15.12	2.0E-4	Tammimies2015 E
USP3	7-0059-003	chr15: 63850844-63850844	C	T	intronic		De novo					-	-	Yuen2017 G
USP3	AU1995302	chr15: 63824591-63824591	T	C	intronic		De novo					-	-	Yuen2017 G
USP3	11142.p1	chr15: 63797929-63797929	C	T	intronic		De novo					-	-	Wilfert2021 G
USP3	AU060403	chr15: 63863557-63863557	T	A	intronic		De novo					-	-	Yuen2017 G
USP3	2-1719-003	chr15: 63864937-63864937	T	A	intronic		De novo					-	-	Yuen2017 G
USP3	DEASD_1007_001	chr15: 63880512-63880512	C	T	exonic		De novo	nonsynonymous SNV	NM_001256702 NM_006537	c.C973T c.C1105T	p.R325C p.R369C	26.1	5.882E-5	Fu2022 E Satterstrom2020 E

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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