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Results for "NBEAL2"
Variant Events: 18
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
14052.p1
chr3:
47036989-47036989
G
A
exonic
De novo
synonymous SNV
NM_015175
c.G1764A
p.A588A
8.362
7.514E-5
Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
Zhou2022
G
E
NBEAL2
11533.p1
chr3:
47049651-47049651
T
G
exonic
De novo
nonsynonymous SNV
NM_015175
c.T7694G
p.L2565R
23.2
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Zhou2022
G
E
NBEAL2
SP0160977
chr3:
47039153-47039153
G
A
exonic
De novo
nonsynonymous SNV
NM_015175
c.G2927A
p.G976E
35.0
-
Trost2022
G
NBEAL2
SP0050353
chr3:
47034016-47034016
C
T
exonic
De novo
nonsynonymous SNV
NM_015175
c.C1084T
p.R362W
14.9
3.0E-4
Fu2022
E
Trost2022
G
Zhou2022
G
E
NBEAL2
1-1134-004
chr3:
47028762-47028762
C
T
intronic
De novo
-
-
Trost2022
G
NBEAL2
SP0098160
chr3:
47037723-47037723
G
T
intronic
De novo
-
8.937E-6
Trost2022
G
NBEAL2
2-1116-003
chr3:
47031186-47031186
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
NBEAL2
SP0099916
chr3:
47045998-47045998
G
A
exonic
De novo
nonsynonymous SNV
NM_015175
c.G6212A
p.R2071H
22.7
7.0E-4
Trost2022
G
Zhou2022
G
E
NBEAL2
SP0127961
chr3:
47041393-47041393
C
G
exonic
nonsynonymous SNV
NM_015175
c.C3804G
p.I1268M
15.04
8.495E-6
Zhou2022
G
E
NBEAL2
1006001
chr3:
47045586-47045592
GCGCCCA
G
exonic
De novo
nonframeshift deletion
NM_015175
c.5902_5907del
p.1968_1969del
-
-
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
NBEAL2
NDAR_INVUD698EUW_wes1
chr3:
47036870-47036870
G
A
exonic
De novo
nonsynonymous SNV
NM_015175
c.G1645A
p.G549R
0.774
1.853E-5
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
NBEAL2
SSC00403
chr3:
47049651-47049651
T
G
exonic
De novo
nonsynonymous SNV
NM_015175
c.T7694G
p.L2565R
23.2
-
Fu2022
E
Lim2017
E
Trost2022
G
NBEAL2
SSC09710
chr3:
47036989-47036989
G
A
exonic
De novo
synonymous SNV
NM_015175
c.G1764A
p.A588A
8.362
7.514E-5
Fu2022
E
Trost2022
G
NBEAL2
TRE_1858
chr3:
47043310-47043310
C
A
exonic
De novo
nonsynonymous SNV
NM_015175
c.C4776A
p.D1592E
19.45
-
Fu2022
E
NBEAL2
SP0072738
chr3:
47041773-47041773
C
T
exonic
De novo
nonsynonymous SNV
NM_015175
c.C4184T
p.P1395L
7.257
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
NBEAL2
160587
chr3:
47040856-47040856
C
T
exonic
De novo
nonsynonymous SNV
NM_015175
c.C3595T
p.R1199C
17.23
1.186E-5
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
NBEAL2
SP0066294
chr3:
47032966-47032966
G
A
exonic
De novo
nonsynonymous SNV
NM_015175
c.G713A
p.R238H
0.016
2.645E-5
Fu2022
E
Trost2022
G
Zhou2022
G
E
NBEAL2
SP0102367
chr3:
47047291-47047291
G
A
exonic
De novo
stopgain
NM_015175
c.G6755A
p.W2252X
46.0
-
Antaki2022
G
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
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 notes
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