Variant Results

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Results for "CAMSAP3"

Variant Events: 10

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
CAMSAP3	P0415	chr19: 7677972-7677972	G	C	exonic		De novo	nonsynonymous SNV	NM_020902 NM_001080429	c.G2593C c.G2674C	p.A865P p.A892P	5.482	-	Hashimoto2016 E
CAMSAP3	09C82566	chr19: 7675609-7675609	C	T	exonic		De novo	synonymous SNV	NM_020902 NM_001080429	c.C924T c.C1005T	p.A308A p.A335A	-	5.0E-4	DeRubeis2014 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CAMSAP3	G01_GEA506HI	chr19: 7676977-7676977	T	C	exonic		De novo	nonsynonymous SNV	NM_020902 NM_001080429	c.T1598C c.T1679C	p.L533P p.L560P	0.022	-	Fu2022 E
CAMSAP3	11252.p1	chr19: 7674749-7674749	G	A	intronic		De novo					-	-	Turner2016 G
CAMSAP3	2-1737-003	chr19: 7663291-7663291	T	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
CAMSAP3	SP0117792	chr19: 7677357-7677357	C	G	exonic		De novo	nonsynonymous SNV	NM_020902 NM_001080429	c.C1978G c.C2059G	p.P660A p.P687A	0.005	-	Fu2022 E Trost2022 G Zhou2022 GE
CAMSAP3	1-0402-004	chr19: 7683862-7683862	A	ATACT	downstream		De novo					-	-	Trost2022 G Yuen2017 G
CAMSAP3	3-0515-000	chr19: 7683893-7683898	GCTAAT	A	downstream		De novo					-	-	Trost2022 G
CAMSAP3	SP0053835	chr19: 7682418-7682418	T	A	intronic		De novo					-	-	Trost2022 G
CAMSAP3	mAGRE4519	chr19: 7677645-7677645	T	TCCCCCAGCCCCGC	exonic		Maternal	frameshift insertion	NM_020902 NM_001080429	c.2266_2267insCCCCCAGCCCCGC c.2347_2348insCCCCCAGCCCCGC	p.S756fs p.S783fs	-	-	Cirnigliaro2023 G

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Paper Information

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