or
or
Exact

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     2-1417-003chr7:
150695838-150695838
CCGintronicDe novo--Yuen2017 G
NOS3     iHART2963chr7:
150699036-150699036
ATexonicPaternalstopgainNM_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     SSC04909chr7:
150696412-150696412
CTexonicDe novononsynonymous SNVNM_001160109
NM_001160110
NM_001160111
NM_000603
c.C1091T
c.C1091T
c.C1091T
c.C1091T
p.T364M
p.T364M
p.T364M
p.T364M
12.78.696E-6Lim2017 E
NOS3     iHART2962chr7:
150699036-150699036
ATexonicPaternalstopgainNM_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.p1chr7:
150696412-150696412
CTexonicDe novononsynonymous SNVNM_001160109
NM_001160110
NM_001160111
NM_000603
c.C1091T
c.C1091T
c.C1091T
c.C1091T
p.T364M
p.T364M
p.T364M
p.T364M
12.78.696E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
NOS3     G01-GEA-134-HIchr7:
150696261-150696261
CTintronicDe novo--Satterstrom2020 E
NOS3     80001100864chr7:
150706436-150706436
GCintronicDe novo--Satterstrom2020 E
NOS3     1-0898-003chr7:
150692305-150692305
CTexonicDe novononsynonymous SNVNM_001160109
NM_001160110
NM_001160111
NM_000603
c.C173T
c.C173T
c.C173T
c.C173T
p.P58L
p.P58L
p.P58L
p.P58L
10.848.527E-6Yuen2017 G
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notesView
More