Variant Results

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Results for "DTX1"

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
DTX1	1-0092-003	chr12: 113534493-113534493	G	A	intronic		De novo					-	2.0E-4	Trost2022 G Yuen2017 G
DTX1	AU3720302	chr12: 113524161-113524161	T	A	intronic		De novo					-	-	Yuen2017 G
DTX1	Kim2020:B6	chr12: 113531867-113531867	G	A	exonic		De novo	nonsynonymous SNV	NM_004416	c.G1190A	p.R397Q	20.2	-	Kim2020 E
DTX1	7-0247-003	chr12: 113494979-113494979	A	G	upstream		De novo					-	-	Trost2022 G Yuen2017 G
DTX1	SP0016562	chr12: 113515473-113515473	C	T	exonic		De novo	synonymous SNV	NM_004416	c.C504T	p.R168R	-	-	Fu2022 E Trost2022 G Zhou2022 GE
DTX1	REACH000626	chr12: 113510986-113510986	A	G	intronic		De novo					-	-	Trost2022 G
DTX1	2-0270-004	chr12: 113529236-113529237	GT	TGG	intronic		De novo					-	-	Trost2022 G
DTX1	ASDFI_982	chr12: 113515286-113515286	G	A	exonic		De novo	nonsynonymous SNV	NM_004416	c.G317A	p.G106D	23.8	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
DTX1	3-0847-000	chr12: 113499317-113499317	C	T	intronic		De novo					-	-	Trost2022 G
DTX1	2-1501-003	chr12: 113503701-113503701	T	A	intronic		De novo					-	-	Trost2022 G 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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