Variant Results

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Results for "CHRND"

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
CHRND	1-0125-003	chr2: 233392150-233392150	G	A	exonic		De novo	nonsynonymous SNV	NM_000751	c.G238A	p.E80K	29.9	-	Trost2022 G Yuen2017 G Zhou2022 GE
CHRND	mAGRE4465	chr2: 233393571-233393571	G	T	splicing		Paternal	splicing				18.83	-	Cirnigliaro2023 G
CHRND	11729.p1	chr2: 233396326-233396326	G	A	exonic		De novo	nonsynonymous SNV	NM_001311195 NM_001256657 NM_000751 NM_001311196	c.G425A c.G962A c.G1007A c.G704A	p.R142Q p.R321Q p.R336Q p.R235Q	37.0	4.123E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Turner2017 G Wilfert2021 G Zhou2022 GE
CHRND	7-0103-003	chr2: 233397733-233397733	C	CT	intronic		De novo					-	-	Trost2022 G
CHRND	SP0023377	chr2: 233396009-233396009	T	G	intronic		De novo					-	-	Fu2022 E
CHRND	SP0142129	chr2: 233392191-233392191	A	C	intronic		De novo					-	-	Fu2022 E
CHRND	SSC03766	chr2: 233396326-233396326	G	A	exonic		De novo	nonsynonymous SNV	NM_001311195 NM_001256657 NM_000751 NM_001311196	c.G425A c.G962A c.G1007A c.G704A	p.R142Q p.R321Q p.R336Q p.R235Q	37.0	4.123E-5	Fu2022 E Trost2022 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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