Variant Results

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Results for "ANGEL2"

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
ANGEL2	SSC11991	chr1: 213168518-213168518	C	T	exonic		De novo	synonymous SNV	NM_001300757 NM_001300758 NM_001300753 NM_001300755 NM_144567	c.G993A c.G993A c.G1122A c.G1122A c.G1500A	p.L331L p.L331L p.L374L p.L374L p.L500L	-	-	Fu2022 E Lim2017 E Trost2022 G
ANGEL2	AU1668302	chr1: 213201245-213201249	ATCGG	A	intergenic		De novo					-	-	Yuen2017 G
ANGEL2	AU4219302	chr1: 213183731-213183731	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ANGEL2	14481.p1	chr1: 213168518-213168518	C	T	exonic		De novo	synonymous SNV	NM_001300757 NM_001300758 NM_001300753 NM_001300755 NM_144567	c.G993A c.G993A c.G1122A c.G1122A c.G1500A	p.L331L p.L331L p.L374L p.L374L p.L500L	-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
ANGEL2	7-0215-003	chr1: 213203809-213203809	A	C	intergenic		De novo					-	-	Yuen2017 G
ANGEL2	MSSNG00045-003	chr1: 213181433-213181433	C	A	intronic		De novo					-	-	Trost2022 G

Source Variant Information

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Paper Information

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