Variant Results

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Results for "DIDO1"

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
DIDO1	13766.p1	chr20: 61512743-61512743	G	A	exonic		De novo	nonsynonymous SNV	NM_001193369 NM_033081	c.C4565T c.C4565T	p.S1522F p.S1522F	19.15	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Wilfert2021 G
DIDO1	2-0126-003	chr20: 61511208-61511208	G	A	exonic		De novo	nonsynonymous SNV	NM_001193369 NM_033081	c.C6100T c.C6100T	p.P2034S p.P2034S	13.01	-	Yuen2015 G
DIDO1	AU4269301	chr20: 61548689-61548689	G	A	intronic		De novo					-	-	Yuen2017 G
DIDO1	AU4250301	chr20: 61536453-61536453	T	C	UTR3		De novo					-	-	Yuen2017 G
DIDO1	AU4159301	chr20: 61533486-61533486	G	C	intronic		De novo					-	-	Yuen2017 G
DIDO1	iHART1705	chr20: 61542291-61542291	A	AC	exonic		Paternal	frameshift insertion	NM_001193369 NM_001193370 NM_022105 NM_033081 NM_080796 NM_080797	c.673dupG c.673dupG c.673dupG c.673dupG c.673dupG c.673dupG	p.V225fs p.V225fs p.V225fs p.V225fs p.V225fs p.V225fs	-	-	Ruzzo2019 G
DIDO1	203-08-109922	chr20: 61510573-61510573	C	T	UTR3		De novo					-	-	Satterstrom2020 E
DIDO1	iHART1704	chr20: 61542291-61542291	A	AC	exonic		Paternal	frameshift insertion	NM_001193369 NM_001193370 NM_022105 NM_033081 NM_080796 NM_080797	c.673dupG c.673dupG c.673dupG c.673dupG c.673dupG c.673dupG	p.V225fs p.V225fs p.V225fs p.V225fs p.V225fs p.V225fs	-	-	Ruzzo2019 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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