Variant Results

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Results for "TRIM23"

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
TRIM23	AU3517302	chr5: 64900745-64900745	A	G	exonic		De novo	nonsynonymous SNV	NM_001656 NM_033227 NM_033228	c.T1172C c.T1172C c.T1172C	p.F391S p.F391S p.F391S	26.4	-	Fu2022 E Satterstrom2020 E Yuen2017 G
TRIM23	3-0294-000	chr5: 64892877-64892877	C	T	splicing		De novo	splicing				31.0	-	Tammimies2015 E
TRIM23	iHART2630	chr5: 64905069-64905069	C	T	splicing		Maternal	splicing				19.76	-	Ruzzo2019 G
TRIM23	SP0085211	chr5: 64909714-64909714	C	T	intronic		De novo					-	-	Fu2022 E
TRIM23	SP0040058	chr5: 64886652-64886652	T	C	UTR3		De novo					-	-	Fu2022 E
TRIM23	12867.p1	chr5: 64892348-64892348	C	T	exonic		De novo	synonymous SNV	NM_001656 NM_033227 NM_033228	c.G1320A c.G1320A c.G1320A	p.V440V p.V440V p.V440V	-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
TRIM23	08C79054	chr5: 64887621-64887621	G	A	exonic		De novo	nonsynonymous SNV	NM_001656	c.C1700T	p.A567V	19.27	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
TRIM23	SSC06111	chr5: 64892348-64892348	C	T	exonic		De novo	synonymous SNV	NM_001656 NM_033227 NM_033228	c.G1320A c.G1320A c.G1320A	p.V440V p.V440V p.V440V	-	-	Fu2022 E Lim2017 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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