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Results for "NOS2"

Variant Events: 11

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
NOS2     JASD_Fam0160chr17:
26096003-26096004
CTCexonicDe novoframeshift deletionNM_000625c.2033delAp.K678fs--Takata2018 E
NOS2     AU4306302chr17:
26154650-26154650
TCintergenicDe novo--Yuen2017 G
NOS2     G01-GEA-136-HIchr17:
26106006-26106006
CTexonicDe novononsynonymous SNVNM_000625c.G1081Ap.G361S36.03.325E-5Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NOS2     mAGRE2303chr17:
26107934-26107934
TCsplicingPaternalsplicing23.72.535E-5Cirnigliaro2023 G
NOS2     SP0015823chr17:
26090053-26090053
ACintronicDe novo--Fu2022 E
NOS2     10-1120-003Achr17:
26125684-26125684
GAintronicDe novo--Trost2022 G
NOS2     SP0023341chr17:
26109068-26109068
CTexonicDe novononsynonymous SNVNM_000625c.G695Ap.R232H18.382.484E-5Fu2022 E
Trost2022 G
Zhou2022 GE
NOS2     2-0305-003chr17:
26188172-26188172
CTintergenicDe novo--Yuen2017 G
NOS2     SP0179292chr17:
26109948-26109948
GAintronicDe novo-1.677E-5Trost2022 G
NOS2     SP0047497chr17:
26116028-26116028
GAintronicDe novo--Fu2022 E
Trost2022 G
NOS2     4-0049-003chr17:
26112604-26112604
GCintronicDe novo--Trost2022 G
Source Variant Information

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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
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