Variant Results

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Results for "NOS3"

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
NOS3	2-1417-003	chr7: 150695838-150695838	C	CG	intronic		De novo					-	-	Yuen2017 G
NOS3	iHART2963	chr7: 150699036-150699036	A	T	exonic		Paternal	stopgain	NM_001160109 NM_001160110 NM_001160111 NM_000603	c.A1630T c.A1630T c.A1630T c.A1630T	p.K544X p.K544X p.K544X p.K544X	39.0	-	Ruzzo2019 G
NOS3	SSC04909	chr7: 150696412-150696412	C	T	exonic		De novo	nonsynonymous SNV	NM_001160109 NM_001160110 NM_001160111 NM_000603	c.C1091T c.C1091T c.C1091T c.C1091T	p.T364M p.T364M p.T364M p.T364M	12.7	8.696E-6	Lim2017 E
NOS3	iHART2962	chr7: 150699036-150699036	A	T	exonic		Paternal	stopgain	NM_001160109 NM_001160110 NM_001160111 NM_000603	c.A1630T c.A1630T c.A1630T c.A1630T	p.K544X p.K544X p.K544X p.K544X	39.0	-	Ruzzo2019 G
NOS3	12362.p1	chr7: 150696412-150696412	C	T	exonic		De novo	nonsynonymous SNV	NM_001160109 NM_001160110 NM_001160111 NM_000603	c.C1091T c.C1091T c.C1091T c.C1091T	p.T364M p.T364M p.T364M p.T364M	12.7	8.696E-6	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
NOS3	G01-GEA-134-HI	chr7: 150696261-150696261	C	T	intronic		De novo					-	-	Satterstrom2020 E
NOS3	80001100864	chr7: 150706436-150706436	G	C	intronic		De novo					-	-	Satterstrom2020 E
NOS3	1-0898-003	chr7: 150692305-150692305	C	T	exonic		De novo	nonsynonymous SNV	NM_001160109 NM_001160110 NM_001160111 NM_000603	c.C173T c.C173T c.C173T c.C173T	p.P58L p.P58L p.P58L p.P58L	10.84	8.527E-6	Yuen2017 G

Source Variant Information

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Paper Information

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