Variant Results

or

Results for "NID2"

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

NID2

1-0546-003

chr14:
52681970-52681970

A

C

intergenic

De novo

-

Yuen2017 G

NID2

1-0546-003

chr14:
52681258-52681258

C

A

intergenic

De novo

-

Yuen2017 G

NID2

555-06-107499

chr14:
52481164-52481164

G

A

exonic

De novo

synonymous SNV

NM_007361

c.C3261T

p.T1087T

0.374

3.0E-4

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NID2

1-0373-003

chr14:
52721718-52721718

G

A

intergenic

De novo

-

Yuen2017 G

NID2

MSSNG00002-004

chr14:
52518746-52518746

T

C

intronic

De novo

-

Trost2022 G

NID2

7-0412-003

chr14:
52535983-52535983

G

C

upstream

De novo

-

Trost2022 G

NID2

MSSNG00452-003

chr14:
52507866-52507866

C

A

intronic

De novo

-

Trost2022 G

NID2

MSSNG00383-003

chr14:
52508372-52508372

G

C

intronic

De novo

-

Trost2022 G

NID2

1-0274-004

chr14:
52643987-52643987

A

G

intergenic

De novo

-

Yuen2017 G

NID2

MSSNG00383-003

chr14:
52501043-52501043

G

T

intronic

De novo

-

Trost2022 G

NID2

1-0546-003

chr14:
52682354-52682354

G

T

intergenic

De novo

-

Yuen2017 G

NID2

MSSNG00383-003

chr14:
52504692-52504692

C

T

intronic

De novo

-

Trost2022 G

NID2

2-1721-003

chr14:
52702561-52702561

T

C

intergenic

De novo

-

Yuen2017 G

NID2

13236_p1

chr14:
52505626-52505626

C

T

exonic

De novo

nonsynonymous SNV

NM_007361

c.G2096A

p.R699H

8.474

1.648E-5

Fu2022 E

NID2

1-0604-003

chr14:
52526141-52526141

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NID2

7-0254-003

chr14:
52520100-52520100

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NID2

2-0144-004

chr14:
52705455-52705455

C

T

intergenic

De novo

-

Yuen2017 G

NID2

AU3617302

chr14:
52651692-52651692

G

A

intergenic

De novo

-

Yuen2017 G

NID2

AU2787301

chr14:
52539934-52539934

A

G

intergenic

De novo

-

Yuen2017 G

NID2

NDAR_INVRT684RNC_wes1

chr14:
52477726-52477726

C

T

exonic

De novo

nonsynonymous SNV

NM_007361

c.G3590A

p.R1197H

12.23

3.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NID2

A9

chr14:
52715608-52715608

G

A

intergenic

De novo

-

Wu2018 G

NID2

AU2129301

Complex Event; expand row to view variants

De novo

splicing

-

5.786E-5

Trost2022 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

NID2

1-0338-005

chr14:
52643966-52643966

T

C

intergenic

De novo

-

Yuen2017 G

NID2

5-0018-003

chr14:
52567959-52567959

T

C

intergenic

De novo

-

Yuen2017 G

NID2

AU2100302

chr14:
52660506-52660506

C

T

intergenic

De novo

-

Yuen2017 G

NID2

2-0122-003

chr14:
52688224-52688224

A

G

intergenic

De novo

-

Yuen2017 G

NID2

AU3891304

chr14:
52698236-52698236

A

G

intergenic

De novo

-

Yuen2017 G

NID2

3-0835-000

chr14:
52505472-52505472

C

T

exonic

De novo

synonymous SNV

NM_007361

c.G2250A

p.P750P

0.04

2.706E-5

Trost2022 G
Zhou2022 GE

NID2

iHART2949

chr14:
52473253-52473253

A

ACC

splicing

Maternal

splicing

-

1.649E-5

Ruzzo2019 G

NID2

1-0208-003

chr14:
52662935-52662935

G

A

intergenic

De novo

-

Yuen2017 G

NID2

iHART2948

chr14:
52473253-52473253

A

ACC

splicing

Maternal

splicing

-

1.649E-5

Ruzzo2019 G

NID2

5-5015-003

chr14:
52534654-52534654

G

T

exonic

De novo

synonymous SNV

NM_007361

c.C456A

p.P152P

-

Trost2022 G
Zhou2022 GE

NID2

2-0273-003

chr14:
52643959-52643959

A

G

intergenic

De novo

-

Yuen2017 G

NID2

MSSNG00066-004

chr14:
52480286-52480286

C

A

intronic

De novo

-

Trost2022 G

NID2

AU005214

chr14:
52503412-52503412

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NID2

MSSNG00066-004

chr14:
52484045-52484045

G

A

intronic

De novo

-

Trost2022 G

NID2

SP0243531

chr14:
52477687-52477687

A

G

exonic

De novo

nonsynonymous SNV

NM_007361

c.T3629C

p.I1210T

22.5

-

Trost2022 G
Trost2022 G

NID2

MT_186.3

chr14:
52479654-52479654

G

A

intronic

De novo

-

Trost2022 G

NID2

AU071203

chr14:
52690200-52690200

A

G

intergenic

De novo

-

Yuen2017 G

NID2

2-0160-003

chr14:
52475268-52475268

C

CAT

intronic

De novo

-

Trost2022 G

NID2

mAGRE2949

chr14:
52473253-52473253

A

ACC

splicing

Maternal

splicing

-

1.649E-5

Cirnigliaro2023 G

NID2

mAGRE2948

chr14:
52473253-52473253

A

ACC

splicing

Maternal

splicing

-

1.649E-5

Cirnigliaro2023 G

NID2

13236.p1

chr14:
52505626-52505626

C

T

exonic

De novo

nonsynonymous SNV

NM_007361

c.G2096A

p.R699H

8.474

1.648E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

NID2

2-1291-003

chr14:
52628920-52628920

G

T

intergenic

De novo

-

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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