Variant Results

or

Results for "NBEAL1"

Variant Events: 44

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

NBEAL1

5-0071-003

chr2:
204004322-204004322

C

CTCTG

intronic

De novo

-

Yuen2017 G

NBEAL1

5-0071-003

chr2:
204056048-204056048

A

AT

intronic

De novo

-

Yuen2017 G

NBEAL1

2-0240-004

chr2:
203883714-203883714

G

GTTGAAAA

intronic

De novo

-

Yuen2017 G

NBEAL1

1-0158-012

chr2:
204056048-204056048

A

AT

intronic

De novo

-

Yuen2017 G

NBEAL1

1-0453-003

chr2:
204095741-204095741

A

G

intergenic

De novo

-

Yuen2017 G

NBEAL1

AU1894304

chr2:
203940527-203940528

TG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NBEAL1

MSSNG00216-003

chr2:
204066337-204066337

A

G

exonic

De novo

nonsynonymous SNV

NM_001114132

c.A7223G

p.H2408R

11.23

-

Trost2022 G
Zhou2022 GE

NBEAL1

7-0078-003

chr2:
203918378-203918378

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NBEAL1

MSSNG00431-003

chr2:
203956077-203956077

A

G

intronic

De novo

-

Trost2022 G

NBEAL1

MSSNG00356-003

chr2:
203973222-203973222

C

T

intronic

De novo

-

Trost2022 G

NBEAL1

MSSNG00014-004

chr2:
203943541-203943541

T

A

intronic

De novo

-

Trost2022 G

NBEAL1

1-0473-003

chr2:
204056048-204056048

A

AT

intronic

De novo

-

Yuen2017 G

NBEAL1

7-0459-003

chr2:
203955130-203955130

C

G

intronic

De novo

-

Trost2022 G

NBEAL1

2-0149-003

chr2:
203899396-203899397

TG

CA

intronic

De novo

-

Trost2022 G

NBEAL1

2-1775-003

chr2:
203921273-203921273

A

G

intronic

De novo

-

Trost2022 G

NBEAL1

JASD_Fam0201

chr2:
203949293-203949293

G

T

splicing

De novo

splicing

24.6

-

Takata2018 E

NBEAL1

4-0102-003

chr2:
203886510-203886510

C

T

intronic

De novo

-

Trost2022 G

NBEAL1

SP0118517

chr2:
203991249-203991250

CT

C

intronic

De novo

-

Fu2022 E
Trost2022 G

NBEAL1

1-1172-003

chr2:
204056777-204056777

T

TTCTGTCAA

intronic

De novo

-

Trost2022 G

NBEAL1

AU1909304

chr2:
203986287-203986287

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NBEAL1

SP0139640

chr2:
203948067-203948067

G

A

exonic

De novo

synonymous SNV

NM_001114132

c.G810A

p.K270K

-

4.264E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

NBEAL1

MSSNG00036-003A

chr2:
204035010-204035010

G

A

intronic

De novo

-

Trost2022 G

NBEAL1

SSC04995

chr2:
203972384-203972384

A

G

exonic

De novo

synonymous SNV

NM_001114132

c.A1335G

p.Q445Q

-

Fu2022 E
Lim2017 E
Trost2022 G

NBEAL1

4-0062-003

chr2:
204050333-204050333

G

A

intronic

De novo

-

Trost2022 G

NBEAL1

2-1299-003

chr2:
203995969-203995969

C

T

intronic

De novo

-

Trost2022 G

NBEAL1

MSSNG00350-003

chr2:
203996442-203996442

G

GT

intronic

De novo

-

Trost2022 G

NBEAL1

SP0005107

chr2:
203972487-203972487

A

G

exonic

De novo

nonsynonymous SNV

NM_001114132

c.A1438G

p.S480G

21.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NBEAL1

MSSNG00044-004

chr2:
203977141-203977141

C

T

intronic

De novo

-

Trost2022 G

NBEAL1

SP0164498

chr2:
203995058-203995058

C

T

exonic

De novo

synonymous SNV

NM_001114132

c.C3336T

p.D1112D

-

Trost2022 G

NBEAL1

iHART3115

chr2:
204016187-204016187

G

A

splicing

Maternal

splicing

24.6

-

Ruzzo2019 G

NBEAL1

mAGRE4511

chr2:
204031988-204031988

C

T

exonic

Maternal

stopgain

NM_001114132

c.C5815T

p.R1939X

50.0

4.145E-5

Cirnigliaro2023 G

NBEAL1

1-0556-003

chr2:
203964651-203964651

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NBEAL1

mAGRE3115

chr2:
204016187-204016187

G

A

splicing

Maternal

splicing

24.6

-

Cirnigliaro2023 G

NBEAL1

1-0552-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

NBEAL1

mAGRE3114

chr2:
204016187-204016187

G

A

splicing

Maternal

splicing

24.6

-

Cirnigliaro2023 G

NBEAL1

mAGRE5995

chr2:
203976812-203976816

CATGA

C

exonic

Maternal

frameshift deletion

NM_001114132

c.2107_2110del

p.M703fs

-

4.238E-5

Cirnigliaro2023 G

NBEAL1

iHART3114

chr2:
204016187-204016187

G

A

splicing

Maternal

splicing

24.6

-

Ruzzo2019 G

NBEAL1

mAGRE1029

chr2:
203922178-203922178

T

G

splicing

Maternal

splicing

24.0

-

Cirnigliaro2023 G

NBEAL1

1-0160-004

chr2:
203883714-203883714

G

GTTGAAAA

intronic

De novo

-

Trost2022 G
Yuen2017 G

NBEAL1

iHART1029

chr2:
203922178-203922178

T

G

splicing

Maternal

splicing

24.0

-

Ruzzo2019 G

NBEAL1

2-1132-003

chr2:
204004322-204004322

C

CTCTG

intronic

De novo

-

Yuen2017 G

NBEAL1

12869.p1

chr2:
203972384-203972384

A

G

exonic

De novo

synonymous SNV

NM_001114132

c.A1335G

p.Q445Q

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NBEAL1

2-1370-003

chr2:
203925311-203925311

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NBEAL1

5-0015-004

chr2:
203984866-203984866

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

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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