Variant Results

or

Results for "NTRK2"

Variant Events: 64

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

NTRK2

1-0051-005

chr9:
87618968-87618968

G

GAA

intronic

De novo

-

Yuen2017 G

NTRK2

3-0458-000B

chr9:
87394864-87394864

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

1-0487-003

chr9:
87900984-87900984

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NTRK2

5-0018-003

chr9:
87403157-87403157

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

AU4365302

chr9:
87886070-87886070

A

T

intergenic

De novo

-

Yuen2017 G

NTRK2

1-1000-003

chr9:
87622918-87622918

C

T

intronic

De novo

-

Yuen2017 G

NTRK2

2-0295-003

chr9:
87676965-87676965

T

C

intergenic

De novo

-

Yuen2017 G

NTRK2

3-0458-000

chr9:
87394864-87394864

A

G

intronic

De novo

-

Yuen2016 G

NTRK2

2-0007-003

chr9:
87738909-87738909

G

A

intergenic

De novo

-

Yuen2017 G

NTRK2

2-1511-003

chr9:
88116583-88116583

G

A

intergenic

De novo

-

Yuen2017 G

NTRK2

AU3885304

chr9:
87404117-87404117

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

1-0289-004

chr9:
88094321-88094321

A

T

intergenic

De novo

-

Yuen2017 G

NTRK2

ASC_CA_58_A

chr9:
87367033-87367033

G

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

NTRK2

1-0300-003

chr9:
87974120-87974121

CT

C

intergenic

De novo

-

Yuen2017 G

NTRK2

AU4154303

chr9:
87482242-87482242

C

T

exonic

De novo

nonsynonymous SNV

NM_001018064
NM_001018066
NM_001018065
NM_006180

c.C1481T
c.C1481T
c.C1529T
c.C1529T

p.S494L
p.S494L
p.S510L
p.S510L

17.29

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

NTRK2

2-0306-004

chr9:
88070045-88070045

C

T

intergenic

De novo

-

Yuen2017 G

NTRK2

3-0458-000A

chr9:
87394864-87394864

A

G

intronic

De novo

-

Yuen2017 G

NTRK2

1-0520-003

chr9:
87754512-87754512

C

T

intergenic

De novo

-

Yuen2016 G

NTRK2

Lim2017:37046

chr9:
87338598-87338598

G

T

exonic

De novo

nonsynonymous SNV

NM_001018064
NM_001007097
NM_001018065
NM_001018066
NM_001291937
NM_006180

c.G694T
c.G694T
c.G694T
c.G694T
c.G694T
c.G694T

p.V232F
p.V232F
p.V232F
p.V232F
p.V232F
p.V232F

14.4

-

Lim2017 E

NTRK2

2-1807-003

chr9:
87294647-87294647

A

G

intronic

De novo

-

Trost2022 G

NTRK2

2-1091-003

chr9:
87311869-87311869

A

G

intronic

De novo

-

Trost2022 G

NTRK2

AU2463301

chr9:
87293225-87293225

C

T

intronic

De novo

-

Trost2022 G

NTRK2

2-0713-003

chr9:
87355019-87355019

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

1-0518-003

chr9:
88089782-88089782

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NTRK2

SP0211807

chr9:
87489221-87489221

C

T

UTR3

De novo

-

Trost2022 G

NTRK2

REACH000224

chr9:
87531309-87531309

C

T

intronic

De novo

-

Trost2022 G

NTRK2

7-0379-003

chr9:
87466224-87466224

G

T

intronic

De novo

-

Trost2022 G

NTRK2

SP0007944

chr9:
87487629-87487629

G

A

UTR3

De novo

-

Trost2022 G

NTRK2

AU004403

chr9:
87443900-87443901

GT

G

intronic

De novo

-

Trost2022 G

NTRK2

2-1781-003

chr9:
87461280-87461280

A

G

intronic

De novo

-

Trost2022 G

NTRK2

REACH000327

chr9:
87337347-87337347

G

A

intronic

De novo

-

Trost2022 G

NTRK2

3-0654-000

chr9:
87347810-87347810

C

G

intronic

De novo

-

Trost2022 G

NTRK2

1-0497-003

chr9:
87728344-87728361

ATGTGTGTGTGTGTGTGT

ATGTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

NTRK2

2-0142-003

chr9:
87857050-87857050

C

CCAT

intergenic

De novo

-

Yuen2017 G

NTRK2

5-0095-003

chr9:
87630693-87630693

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

7-0059-003

chr9:
87618911-87618911

G

GAA

intronic

De novo

-

Yuen2017 G

NTRK2

5-5126-003

chr9:
87590635-87590635

G

A

intronic

De novo

-

Trost2022 G

NTRK2

1-1000-003A

chr9:
87622918-87622918

C

T

intronic

De novo

-

Trost2022 G

NTRK2

5-0512-003

chr9:
87566410-87566410

G

T

intronic

De novo

-

Trost2022 G

NTRK2

1-0347-003

chr9:
87684352-87684352

C

G

intergenic

De novo

-

Yuen2017 G

NTRK2

5-0026-003

chr9:
87571833-87571833

C

T

intronic

De novo

-

Trost2022 G

NTRK2

2-0110-003

chr9:
87931274-87931274

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NTRK2

AU2320301

chr9:
87547919-87547919

C

A

intronic

De novo

-

Trost2022 G

NTRK2

AU055603

chr9:
87551578-87551578

A

C

intronic

De novo

-

Trost2022 G

NTRK2

2-0214-004

chr9:
87317908-87317908

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

2-0299-005

chr9:
87434180-87434180

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

AU3918301

chr9:
88056624-88056624

G

A

intergenic

De novo

-

Yuen2017 G

NTRK2

2-0081-003

chr9:
87684757-87684757

G

A

intergenic

De novo

-

Yuen2017 G

NTRK2

37046

chr9:
87338598-87338598

G

T

exonic

De novo

nonsynonymous SNV

NM_001018064
NM_001007097
NM_001018065
NM_001018066
NM_001291937
NM_006180

c.G694T
c.G694T
c.G694T
c.G694T
c.G694T
c.G694T

p.V232F
p.V232F
p.V232F
p.V232F
p.V232F
p.V232F

14.4

-

Fu2022 E
Trost2022 G

NTRK2

2-0081-003

chr9:
87583876-87583876

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

2-0081-003

chr9:
87352111-87352111

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTRK2

2-0149-004

chr9:
87563499-87563499

C

T

exonic

De novo

synonymous SNV

NM_001018064
NM_006180

c.C1839T
c.C1887T

p.L613L
p.L629L

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

NTRK2

AU4372309

chr9:
87786535-87786535

T

C

intergenic

De novo

-

Yuen2017 G

NTRK2

2-0295-004

chr9:
87676965-87676965

T

C

intergenic

De novo

-

Yuen2017 G

NTRK2

2-0081-003

chr9:
87959903-87959903

G

A

intergenic

De novo

-

Yuen2017 G

NTRK2

2-0081-003

chr9:
87897702-87897702

A

C

intergenic

De novo

-

Yuen2017 G

NTRK2

111308

chr9:
87563494-87563494

C

A

exonic

nonsynonymous SNV

NM_001018064
NM_006180

c.C1834A
c.C1882A

p.P612T
p.P628T

29.6

-

Woodbury-Smith2022 E

NTRK2

SP0082860

chr9:
87476018-87476018

A

G

intronic

De novo

-

Fu2022 E

NTRK2

SP0073105

chr9:
87425786-87425786

T

A

UTR3

De novo

-

Fu2022 E

NTRK2

SP0078423

chr9:
87636362-87636362

C

A

UTR3

De novo

-

Fu2022 E
Trost2022 G

NTRK2

SP0038810

chr9:
87482268-87482268

A

G

exonic

De novo

nonsynonymous SNV

NM_001018064
NM_001018066
NM_001018065
NM_006180

c.A1507G
c.A1507G
c.A1555G
c.A1555G

p.I503V
p.I503V
p.I519V
p.I519V

22.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NTRK2

14626.p1

chr9:
87338598-87338598

G

T

exonic

De novo

nonsynonymous SNV

NM_001018064
NM_001007097
NM_001018065
NM_001018066
NM_001291937
NM_006180

c.G694T
c.G694T
c.G694T
c.G694T
c.G694T
c.G694T

p.V232F
p.V232F
p.V232F
p.V232F
p.V232F
p.V232F

14.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NTRK2

2-1154-003

chr9:
88123104-88123104

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NTRK2

1-0652-003

chr9:
88039082-88039082

C

G

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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