Variant Results

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Results for "AREL1"

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
AREL1	3-0227-000	chr14: 75151252-75151253	CG	C	exonic		De novo	stopgain	NM_001039479	c.147delC	p.Y49X	-	-	Tammimies2015 E
AREL1	1-0582-003	chr14: 75149486-75149500	CCTCTCTCTCTCTCT	CCTCTCTCTCTCT	intronic		De novo					-	-	Yuen2017 G
AREL1	SSC02332	chr14: 75142520-75142520	G	A	exonic		De novo	nonsynonymous SNV	NM_001039479	c.C962T	p.S321F	26.0	-	Fu2022 E Lim2017 E Trost2022 G
AREL1	ASC_CA_187_A	chr14: 75142433-75142433	G	A	exonic		De novo	nonsynonymous SNV	NM_001039479	c.C1049T	p.P350L	24.1	8.288E-6	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
AREL1	11462.p1	chr14: 75142520-75142520	G	A	exonic		De novo	nonsynonymous SNV	NM_001039479	c.C962T	p.S321F	26.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
AREL1	AU2212301	chr14: 75134748-75134748	A	C	intronic		De novo					-	-	Trost2022 G
AREL1	2-1335-003	chr14: 75145571-75145571	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G

Source Variant Information

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Paper Information

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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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