Variant Results

or

Results for "NBEA"

Variant Events: 37

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

NBEA

Lim2017:37355

chr13:
36129146-36129146

C

T

exonic

De novo

stopgain

NM_001204197
NM_015678

c.C208T
c.C6829T

p.R70X
p.R2277X

51.0

-

Lim2017 E

NBEA

21879-36229

chr13:
35632895-35632895

T

G

exonic

Inherited

nonsynonymous SNV

NM_015678

c.T1134G

p.D378E

20.7

-

Callaghan2019 G

NBEA

118_15mr

chr13:
35734187-35734187

A

T

intronic

De novo

-

Satterstrom2020 E

NBEA

Chen2021:65

chr13:
36225989-36225989

C

G

exonic

De novo

nonsynonymous SNV

NM_001204197
NM_015678

c.C1327G
c.C7948G

p.P443A
p.P2650A

23.0

-

Chen2021 GET

NBEA

AU2089301

chr13:
35728873-35728873

C

T

intronic

De novo

-

Yuen2017 G

NBEA

7-0168-003

chr13:
35886841-35886841

A

C

intronic

De novo

-

Yuen2017 G

NBEA

F11014-1

chr13:
35624446-35624446

G

A

exonic

De novo

nonsynonymous SNV

NM_015678

c.G886A

p.V296I

25.8

-

Fu2022 E

NBEA

AU4006302

chr13:
35643070-35643070

C

T

intronic

De novo

-

Yuen2017 G

NBEA

37355

chr13:
36129146-36129146

C

T

exonic

De novo

stopgain

NM_001204197
NM_015678

c.C208T
c.C6829T

p.R70X
p.R2277X

51.0

-

Fu2022 E

NBEA

1-0357-003

chr13:
35566769-35566769

T

C

intronic

De novo

-

Yuen2017 G

NBEA

AU4487302

chr13:
35654625-35654625

T

C

intronic

De novo

-

Yuen2017 G

NBEA

AU060803

chr13:
35960352-35960352

A

C

intronic

De novo

-

Yuen2017 G

NBEA

ASC_CA_183_A

chr13:
35517274-35517274

A

G

intronic

De novo

-

1.0E-4

Satterstrom2020 E

NBEA

7-0254-003

chr13:
35682543-35682543

A

T

intronic

De novo

-

Yuen2017 G

NBEA

AU011604

chr13:
35730288-35730288

C

T

exonic

Unknown

nonsynonymous SNV

NM_015678

c.C2596T

p.R866C

25.1

1.628E-5

Stessman2017 T

NBEA

217-14383-1300

chr13:
36006453-36006453

G

A

exonic

Paternal

nonsynonymous SNV

NM_015678

c.G6227A

p.R2076H

35.0

-

Stessman2017 T

NBEA

GX0291.p1

chr13:
35622758-35622758

C

T

exonic

Maternal

nonsynonymous SNV

NM_015678

c.C782T

p.T261I

32.0

-

Guo2018 T

NBEA

SSC08843

chr13:
36129146-36129146

C

T

exonic

stopgain

NM_001204197
NM_015678

c.C208T
c.C6829T

p.R70X
p.R2277X

51.0

-

Antaki2022 GE

NBEA

SP0100138

chr13:
36229811-36229811

G

A

exonic

De novo

nonsynonymous SNV

NM_001204197
NM_015678

c.G1603A
c.G8224A

p.G535R
p.G2742R

36.0

-

Fu2022 E

NBEA

2-1501-003

chr13:
36020353-36020353

T

C

intronic

De novo

-

Yuen2017 G

NBEA

1-0579-003

chr13:
35881649-35881656

ATTTTTTT

ATTTTTTTT

intronic

De novo

-

Yuen2017 G

NBEA

1-0673-003

chr13:
35933518-35933524

CTCTTTC

CTC

intronic

De novo

-

Yuen2017 G

NBEA

M32095

chr13:
35730285-35730285

C

T

exonic

Maternal

nonsynonymous SNV

NM_015678

c.C2593T

p.R865C

30.0

-

Guo2018 T

NBEA

SP0003496

chr13:
35615208-35615208

C

T

exonic

De novo

stopgain

NM_015678

c.C433T

p.R145X

43.0

-

Feliciano2019 E
Fu2022 E

NBEA

1-0389-003

chr13:
36241515-36241515

C

T

exonic

De novo

synonymous SNV

NM_001204197
NM_015678

c.C1785T
c.C8406T

p.G595G
p.G2802G

-

8.331E-6

Yuen2015 G

NBEA

7-0102-003

chr13:
35761627-35761627

T

C

intronic

De novo

-

Yuen2017 G

NBEA

AU4378301

chr13:
35637055-35637055

G

A

intronic

De novo

-

Yuen2017 G

NBEA

ASDFI_782

chr13:
36180647-36180647

G

A

exonic

De novo

nonsynonymous SNV

NM_001204197
NM_015678

c.G760A
c.G7381A

p.V254M
p.V2461M

12.49

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E

NBEA

AU3779302

chr13:
35618972-35618972

G

T

intronic

De novo

-

Yuen2017 G

NBEA

AU2427301

chr13:
35530296-35530296

C

G

intronic

De novo

-

Yuen2017 G

NBEA

1-0464-003

chr13:
35588186-35588186

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NBEA

AU4483301

chr13:
35679092-35679092

A

G

intronic

De novo

-

Yuen2017 G

NBEA

7-0100-004

chr13:
35747988-35747988

A

AACTGTTATT

intronic

De novo

-

Yuen2017 G

NBEA

13761.p1

chr13:
36129146-36129146

C

T

exonic

De novo

stopgain

NM_001204197
NM_015678

c.C208T
c.C6829T

p.R70X
p.R2277X

51.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

NBEA

AU0146302

chr13:
35781931-35781931

C

T

intronic

De novo

-

Yuen2017 G

NBEA

HN0105.p1

chr13:
35624411-35624411

G

A

exonic

Both parents

nonsynonymous SNV

NM_015678

c.G851A

p.R284H

34.0

8.837E-6

Guo2018 T

NBEA

08C78393

chr13:
36006374-36006374

A

G

intronic

De novo

-

Satterstrom2020 E

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
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