Variant Results

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Results for "SPARCL1"

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
SPARCL1	3-0391-000	chr4: 88412805-88412805	G	A	exonic		De novo	nonsynonymous SNV	NM_001291977 NM_004684 NM_001128310 NM_001291976	c.C881T c.C1256T c.C1256T c.C881T	p.T294M p.T419M p.T419M p.T294M	10.69	-	Tammimies2015 E Yuen2017 G
SPARCL1	ASDFI_910	chr4: 88416183-88416183	C	A	exonic		De novo	stopgain	NM_004684 NM_001128310	c.G151T c.G151T	p.E51X p.E51X	17.77	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E
SPARCL1	1-0233-004	chr4: 88524874-88524874	G	A	intergenic		De novo					-	-	Yuen2017 G
SPARCL1	2-1196-003	chr4: 88505376-88505388	TACACACACACAC	TACACACACAC	intergenic		De novo					-	-	Yuen2017 G
SPARCL1	2-1299-003	chr4: 88469108-88469108	C	T	intergenic		De novo					-	-	Yuen2017 G
SPARCL1	2-1127-003	chr4: 88528358-88528358	T	A	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
SPARCL1	AU3951301	chr4: 88473139-88473139	G	A	intergenic		De novo					-	-	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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