or
or
Exact

Results for "NOS1"

Variant Events: 20

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
NOS1     5-0003-004chr12:
117853539-117853539
AGintergenicDe novo--Yuen2017 G
NOS1     AU3859301chr12:
117761943-117761943
GAintronicDe novo--Yuen2017 G
NOS1     1-0244-003chr12:
117650320-117650320
CGUTR3De novo--Yuen2016 G
Yuen2017 G
NOS1     2-1245-003chr12:
117876242-117876242
GAintergenicDe novo--Yuen2017 G
NOS1     AU1988302chr12:
117649447-117649447
GAUTR3De novo--Yuen2017 G
NOS1     A14chr12:
117807841-117807841
CTintergenicDe novo--Wu2018 G
NOS1     1-0507-003chr12:
117677552-117677552
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NOS1     1-0553-003chr12:
117838434-117838434
GAintergenicDe novo--Yuen2017 G
NOS1     13001.p1chr12:
117768514-117768514
GAexonicDe novononsynonymous SNVNM_000620
NM_001204218
c.C361T
c.C361T
p.R121W
p.R121W
20.1-Satterstrom2020 E
NOS1     1-0936-003chr12:
117760895-117760895
CTintronicDe novo--Yuen2017 G
NOS1     2-0214-003chr12:
117790373-117790373
GAintronicDe novo--Yuen2017 G
NOS1     AU4013301chr12:
117874517-117874517
CTintergenicDe novo--Yuen2017 G
NOS1     2-0242-005chr12:
117782512-117782512
CTintronicDe novo--Yuen2017 G
NOS1     1-0473-003chr12:
117862478-117862478
GAintergenicDe novo--Yuen2017 G
NOS1     AU050603chr12:
117853734-117853734
GAintergenicDe novo--Yuen2017 G
NOS1     AU061104chr12:
117738212-117738212
TCintronicDe novo--Yuen2017 G
NOS1     1-0253-005chr12:
117802494-117802494
GAintergenicDe novo--Yuen2017 G
NOS1     2-1341-004chr12:
117770623-117770623
TCintronicDe novo--Yuen2017 G
NOS1     AU3787303chr12:
117661691-117661691
TAintronicDe novo--Yuen2017 G
NOS1     2-1235-004chr12:
117847223-117847223
GGGTGTintergenicDe novo--Yuen2017 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