Variant Results

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Results for "SUCLA2"

Variant Events: 6

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
SUCLA2	08C73740	chr13: 48575333-48575333	G	A	exonic		De novo	stopgain	NM_003850	c.C73T	p.Q25X	7.221	-	Neale2012 E
SUCLA2	AU3605304	chr13: 48596663-48596663	C	T	intergenic		De novo					-	-	Yuen2017 G
SUCLA2	SP0075360	chr13: 48575333-48575333	G	C	exonic		De novo	nonsynonymous SNV	NM_003850	c.C73G	p.Q25E	6.588	-	Fu2022 E
SUCLA2	2-1362-003	chr13: 48544106-48544106	G	A	intronic		De novo					-	-	Yuen2017 G
SUCLA2	iHART2154	chr13: 48528418-48528418	C	T	splicing		Maternal	splicing				17.94	-	Ruzzo2019 G
SUCLA2	iHART2155	chr13: 48528418-48528418	C	T	splicing		Maternal	splicing				17.94	-	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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