Variant Results

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Results for "TIPARP"

Variant Events: 10

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
TIPARP	1-0338-003	chr3: 156423755-156423755	G	T	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
TIPARP	Codina-Sola2015:ASD_33	chr3: 156395441-156395441	C	G	intronic		Maternal					-	-	Codina-Sola2015 E
TIPARP	SP0026298	chr3: 156413633-156413633	G	A	intronic		De novo					-	-	Fu2022 E
TIPARP	1-0304-003	chr3: 156459307-156459307	G	A	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
TIPARP	2-1196-003	chr3: 156416264-156416264	G	T	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
TIPARP	SP0016887	chr3: 156422507-156422507	C	T	exonic		De novo	nonsynonymous SNV	NM_001184717 NM_001184718 NM_015508	c.C1561T c.C1561T c.C1561T	p.R521C p.R521C p.R521C	15.92	1.0E-4	Feliciano2019 E Fu2022 E Trost2022 G Zhou2022 GE
TIPARP	AU2320301	chr3: 156418709-156418709	G	A	intronic		De novo					-	-	Trost2022 G
TIPARP	3-0099-000	chr3: 156404556-156404556	A	G	intronic		De novo					-	-	Trost2022 G
TIPARP	1-0563-003	chr3: 156411704-156411706	AGG	CGCGCCCGGC	intronic		De novo					-	-	Trost2022 G
TIPARP	5-0074-003	chr3: 156427038-156427038	C	G	intergenic		De novo					-	-	Yuen2017 G

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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