Variant Results

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Results for "TROVE2"

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
TROVE2	SP0081858	chr1: 193038230-193038230	A	T	exonic		De novo	nonsynonymous SNV	NM_001042369 NM_001042370 NM_001173524 NM_001173525 NM_004600	c.A46T c.A46T c.A46T c.A46T c.A46T	p.I16L p.I16L p.I16L p.I16L p.I16L	15.22	-	Fu2022 E Trost2022 G Zhou2022 GE
TROVE2	2-1644-004	chr1: 193050664-193050669	AAAACT	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TROVE2	7-0129-003	chr1: 193050580-193050580	C	T	exonic		De novo	synonymous SNV	NM_001042369 NM_001042370 NM_001173524 NM_001173525 NM_004600	c.C1173T c.C1173T c.C1173T c.C1173T c.C1173T	p.N391N p.N391N p.N391N p.N391N p.N391N	-	1.663E-5	Trost2022 G Yuen2017 G Zhou2022 GE
TROVE2	B224603	chr1: 193053707-193053707	A	C	splicing		De novo	splicing				19.7	-	Fu2022 E
TROVE2	12826.p1	Complex Event; expand row to view variants					De novo	frameshift deletion	NM_001042369 NM_001042370 NM_001173524 NM_001173525 NM_004600 NM_001042369 NM_001042370 NM_001173524 NM_001173525 NM_004600	c.757_760del c.757_760del c.757_760del c.757_760del c.757_760del c.758_761del c.758_761del c.758_761del c.758_761del c.758_761del	p.L253fs p.L253fs p.L253fs p.L253fs p.L253fs p.L253fs p.L253fs p.L253fs p.L253fs p.L253fs	-	-	Dong2014 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E O’Roak2014 T Satterstrom2020 E Willsey2013 E
TROVE2	SSC06076	chr1: 193045125-193045129	ATTAG	A	exonic		De novo	frameshift deletion	NM_001042369 NM_001042370 NM_001173524 NM_001173525 NM_004600	c.757_760del c.757_760del c.757_760del c.757_760del c.757_760del	p.L253fs p.L253fs p.L253fs p.L253fs p.L253fs	-	-	Fu2022 E Trost2022 G
TROVE2	SP0177800	chr1: 193028858-193028858	A	T	UTR5		De novo					13.24	-	Trost2022 G Trost2022 G
TROVE2	Li2017:19723	chr1: 193038630-193038630	G	A	exonic		Unknown	nonsynonymous SNV	NM_001042369 NM_001042370 NM_001173524 NM_001173525 NM_004600	c.G446A c.G446A c.G446A c.G446A c.G446A	p.R149Q p.R149Q p.R149Q p.R149Q p.R149Q	33.0	3.312E-5	Li2017 T

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Paper Information

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