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Results for "NBEAL2"

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
NBEAL2     1006001chr3:
47045586-47045592
GCGCCCAGexonicDe novononframeshift deletionNM_015175c.5902_5907delp.1968_1969del--Satterstrom2020 E
NBEAL2     14052.p1chr3:
47036989-47036989
GAexonicDe novosynonymous SNVNM_015175c.G1764Ap.A588A8.3627.514E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NBEAL2     NDAR_INVUD698EUW_wes1chr3:
47036870-47036870
GAexonicDe novononsynonymous SNVNM_015175c.G1645Ap.G549R0.7741.853E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
NBEAL2     SSC00403chr3:
47049651-47049651
TGexonicDe novononsynonymous SNVNM_015175c.T7694Gp.L2565R23.2-Lim2017 E
NBEAL2     11533.p1chr3:
47049651-47049651
TGexonicDe novononsynonymous SNVNM_015175c.T7694Gp.L2565R23.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
NBEAL2     2-1116-003chr3:
47031186-47031186
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NBEAL2     160587chr3:
47040856-47040856
CTexonicDe novononsynonymous SNVNM_015175c.C3595Tp.R1199C17.231.186E-5Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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