Variant Results

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Results for "SCAND1"

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
SCAND1	SP0051090	chr20: 34541804-34541804	G	T	exonic		De novo	nonsynonymous SNV	NM_033630 NM_016558	c.C592A c.C403A	p.Q198K p.Q135K	32.0	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
SCAND1	SP0022437	chr20: 34542371-34542371	T	C	exonic		De novo	nonsynonymous SNV	NM_033630	c.A133G	p.R45G	-	-	Fu2022 E
SCAND1	11740.p1	chr20: 34542214-34542214	G	C	exonic		De novo	nonsynonymous SNV	NM_033630	c.C182G	p.A61G	-	-	Ji2016 E Krumm2015 E Satterstrom2020 E
SCAND1	08C74054	chr20: 34541798-34541798	G	A	exonic		De novo	synonymous SNV	NM_033630 NM_016558	c.C598T c.C409T	p.L200L p.L137L	-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SCAND1	SSC03064	chr20: 34542214-34542214	G	C	exonic		De novo	nonsynonymous SNV	NM_033630	c.C182G	p.A61G	-	-	Trost2022 G
SCAND1	5-1004-003A	chr20: 34541664-34541664	C	G	UTR3		De novo					-	-	Trost2022 G
SCAND1	AU3371301	chr20: 34549866-34549866	A	C	intergenic		De novo					-	-	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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