Variant Results

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Results for "CA3"

Variant Events: 8

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
CA3	DEASD_1043_001	chr8: 86356291-86356291	A	T	exonic		De novo	nonsynonymous SNV	NM_005181	c.A380T	p.Y127F	32.0	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CA3	AU026412	chr8: 86353364-86353364	T	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
CA3	G01-GEA-212-HI	chr8: 86358486-86358489	GGCT	G	exonic		De novo	nonframeshift deletion	NM_005181	c.624_626del	p.208_209del	-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CA3	11495.p1	chr8: 86356323-86356323	G	A	exonic		De novo	nonsynonymous SNV	NM_005181	c.G412A	p.D138N	27.3	3.309E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
CA3	11495_p1	chr8: 86356323-86356323	G	A	exonic		De novo	nonsynonymous SNV	NM_005181	c.G412A	p.D138N	27.3	3.309E-5	Fu2022 E
CA3	09C81580	chr8: 86356291-86356291	A	T	exonic		De novo	nonsynonymous SNV	NM_005181	c.A380T	p.Y127F	32.0	-	DeRubeis2014 E Kosmicki2017 E Lim2017 E
CA3	AU2320301	chr8: 86351673-86351674	TA	T	intronic		De novo					-	-	Trost2022 G
CA3	3-0322-000	chr8: 86351421-86351421	A	G	intronic		De novo					-	-	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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