Variant Results

or

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 GE

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 GE

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 GE

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 GE

NBEAL2

SP0127961

chr3:
47041393-47041393

C

G

exonic

nonsynonymous SNV

NM_015175

c.C3804G

p.I1268M

15.04

8.495E-6

Zhou2022 GE

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 GE

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 GE

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 GE

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 GE

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 GE

NBEAL2

SP0102367

chr3:
47047291-47047291

G

A

exonic

De novo

stopgain

NM_015175

c.G6755A

p.W2252X

46.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

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 notes	View
	More