Variant Results

or

or

Results for "TBL3"

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
TBL3	14260.p1	chr16: 2025173-2025173	C	T	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Trost2022 G
TBL3	Chen2017:24	chr16: 2025006-2025006	C	G	exonic		De novo	stopgain	NM_006453	c.C542G	p.S181X	28.0	-	Chen2017 E
TBL3	1-0445-003	chr16: 2026948-2026948	C	T	exonic		De novo	nonsynonymous SNV	NM_006453	c.C1426T	p.R476C	17.95	-	Trost2022 G Yuen2017 G Zhou2022 GE
TBL3	G01-GEA-91-HI	chr16: 2026289-2026289	C	G	exonic		De novo	nonsynonymous SNV	NM_006453	c.C1266G	p.H422Q	6.066	-	Fu2022 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
TBL3	200675399_1082034688	chr16: 2025006-2025006	C	G	exonic		De novo	stopgain	NM_006453	c.C542G	p.S181X	28.0	-	Fu2022 E
TBL3	200675399@1082034688	chr16: 2025006-2025006	C	G	exonic		De novo	stopgain	NM_006453	c.C542G	p.S181X	28.0	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
TBL3	SP0058405	chr16: 2024377-2024377	G	A	exonic		De novo	nonsynonymous SNV	NM_006453	c.G190A	p.E64K	19.33	4.25E-5	Fu2022 E Trost2022 G Zhou2022 GE
TBL3	SP0195684	chr16: 2027018-2027018	G	C	intronic		De novo					-	-	Trost2022 G
TBL3	SP0136053	chr16: 2027351-2027351	T	G	intronic		De novo					-	-	Trost2022 G Zhou2022 GE
TBL3	SP0157392	chr16: 2025561-2025561	G	A	exonic		De novo	synonymous SNV	NM_006453	c.G837A	p.G279G	-	-	Trost2022 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More