Variant Results

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Results for "TROAP"

Variant Events: 6

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
TROAP	SP0156955	chr12: 49725005-49725005	A	C	exonic		De novo	nonsynonymous SNV	NM_005480	c.A2107C	p.N703H	11.3	-	Trost2022 G
TROAP	SP0174939	chr12: 49719668-49719668	G	A	splicing		De novo	splicing				12.07	-	Trost2022 G
TROAP	11107_p1	chr12: 49725038-49725038	C	T	exonic		De novo	nonsynonymous SNV	NM_005480	c.C2140T	p.R714C	24.5	1.65E-5	Fu2022 E
TROAP	11107.p1	chr12: 49725038-49725038	C	T	exonic		De novo	nonsynonymous SNV	NM_005480	c.C2140T	p.R714C	24.5	1.65E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
TROAP	SP0067018	chr12: 49725325-49725325	T	G	intronic		De novo					-	-	Fu2022 E
TROAP	SP0044900	chr12: 49724070-49724070	C	T	exonic		De novo	nonsynonymous SNV	NM_005480	c.C1442T	p.A481V	11.46	-	Fu2022 E Trost2022 G Zhou2022 GE

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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