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Results for "NIT2"

Variant Events: 7

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
NIT2     133338chr3:
100067724-100067724
CTexonicnonsynonymous SNVNM_020202c.C583Tp.R195W20.33.317E-5Woodbury-Smith2022 E
NIT2     MSSNG00045-004chr3:
100077549-100077549
GAintergenicDe novo--Trost2022 G
NIT2     mAGRE4102chr3:
100065024-100065024
GTsplicingMaternalsplicing25.62.492E-5Cirnigliaro2023 G
NIT2     MSSNG00380-003chr3:
100059668-100059668
TGintronicDe novo--Trost2022 G
NIT2     AU061003chr3:
100061794-100061794
AGintronicDe novo--Trost2022 G
Yuen2017 G
NIT2     SJD_75.3chr3:
100076566-100076566
CGintergenicDe novo--Trost2022 G
NIT2     14363.p1chr3:
100073605-100073605
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
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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