Variant Results

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Results for "TPR"

Variant Events: 7

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
TPR	14033.p1	chr1: 186344048-186344048	C	T	exonic		Mosaic, De novo	nonsynonymous SNV	NM_003292	c.G113A	p.G38D	12.58	-	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Zhou2022 GE
TPR	09C97129	chr1: 186344150-186344150	A	C	exonic		De novo	nonsynonymous SNV	NM_003292	c.T11G	p.V4G	32.0	2.566E-5	Fu2022 E
TPR	SSC09647	chr1: 186344048-186344048	C	T	exonic		Mosaic	nonsynonymous SNV	NM_003292	c.G113A	p.G38D	12.58	-	Lim2017 E
TPR	SP0087448	chr1: 186324772-186324772	T	C	exonic		De novo	nonsynonymous SNV	NM_003292	c.A2017G	p.K673E	21.1	-	Fu2022 E Trost2022 G Zhou2022 GE
TPR	12719.p1	chr1: 186305701-186305701	T	C	exonic		De novo	synonymous SNV	NM_003292	c.A4632G	p.Q1544Q	-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
TPR	SP0123834	chr1: 186302505-186302505	A	G	exonic		De novo	nonsynonymous SNV	NM_003292	c.T5204C	p.V1735A	17.78	-	Fu2022 E Trost2022 G Zhou2022 GE
TPR	SP0076503	chr1: 186300646-186300646	T	G	exonic		De novo	nonsynonymous SNV	NM_003292	c.A5672C	p.Q1891P	17.28	-	Fu2022 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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