Variant Results

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Results for "UBE3B"

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
UBE3B	SP0100802	chr12: 109961849-109961849	G	A	exonic		De novo	nonsynonymous SNV	NM_130466 NM_183415	c.G2431A c.G2431A	p.V811I p.V811I	13.56	3.295E-5	Fu2022 E
UBE3B	5-0137-003	chr12: 109915480-109915480	C	T	UTR5		De novo					-	-	Yuen2017 G
UBE3B	AU4072303	chr12: 109945265-109945265	G	A	intronic		De novo					-	-	Yuen2017 G
UBE3B	1-0233-004	chr12: 109938334-109938334	A	G	intronic		De novo					-	-	Yuen2017 G
UBE3B	DEASD_0160_001	chr12: 109927896-109927896	G	A	intronic		De novo					16.41	-	Fu2022 E Satterstrom2020 E
UBE3B	Codina-Sola2015:ASD_35	chr12: 109921492-109921492	C	T	exonic		Maternal	nonsynonymous SNV	NM_001270449 NM_001270450 NM_001270451 NM_130466 NM_183415	c.C136T c.C136T c.C136T c.C136T c.C136T	p.R46W p.R46W p.R46W p.R46W p.R46W	16.02	1.0E-4	Codina-Sola2015 E
UBE3B	2-1398-003	chr12: 109951099-109951115	GTGGCCACTGGAGGTGC	G	intronic		De novo					-	-	Yuen2017 G
UBE3B	021-07-107622	chr12: 109948225-109948225	C	T	exonic		De novo	synonymous SNV	NM_130466 NM_183415	c.C1818T c.C1818T	p.C606C p.C606C	-	-	Fu2022 E Satterstrom2020 E
UBE3B	MT_69	chr12: 109924375-109924375	C	T	exonic		Maternal	nonsynonymous SNV	NM_001270449 NM_001270450 NM_001270451 NM_130466 NM_183415	c.C442T c.C442T c.C442T c.C442T c.C442T	p.L148F p.L148F p.L148F p.L148F p.L148F	15.31	2.0E-4	Toma2013 E

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Paper Information

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