Variant Results

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Results for "THBS3"

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
THBS3	Wang2023:662	chr1: 155168236-155168236	G	A	exonic		De novo	nonsynonymous SNV	NM_001252608 NM_001252607 NM_007112	c.C1678T c.C2011T c.C2038T	p.R560C p.R671C p.R680C	17.8	3.297E-5	Wang2023 E
THBS3	13135.p1	chr1: 155167958-155167958	C	T	exonic		De novo	nonsynonymous SNV	NM_001252608 NM_001252607 NM_007112	c.G1768A c.G2101A c.G2128A	p.D590N p.D701N p.D710N	24.5	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
THBS3	SSC10287	chr1: 155168285-155168285	A	G	exonic		De novo	synonymous SNV	NM_001252608 NM_001252607 NM_007112	c.T1629C c.T1962C c.T1989C	p.D543D p.D654D p.D663D	-	-	Fu2022 E Lim2017 E Trost2022 G
THBS3	SP0151052	chr1: 155173277-155173277	G	A	intronic		De novo					-	8.744E-6	Trost2022 G
THBS3	13902.p1	chr1: 155168285-155168285	A	G	exonic		De novo	synonymous SNV	NM_001252608 NM_001252607 NM_007112	c.T1629C c.T1962C c.T1989C	p.D543D p.D654D p.D663D	-	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE
THBS3	SP0014502	chr1: 155167854-155167854	T	G	exonic		De novo	synonymous SNV	NM_001252608 NM_001252607 NM_007112	c.A1872C c.A2205C c.A2232C	p.P624P p.P735P p.P744P	-	-	Trost2022 G

Source Variant Information

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Paper Information

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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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