Variant Results

or

Results for "NOTCH2"

Variant Events: 56

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

NOTCH2

Shi2013:1

chr1:
120459206-120459206

G

A

exonic

Inherited

nonsynonymous SNV

NM_024408

c.C6139T

p.R2047W

15.59

1.651E-5

Shi2013 G

NOTCH2

PN400557

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

2-0704-003

chr1:
120594473-120594473

T

C

intronic

De novo

-

Yuen2017 G

NOTCH2

AU4024303

chr1:
120616986-120616986

G

A

intergenic

De novo

-

Yuen2017 G

NOTCH2

1-0969-003

chr1:
120832048-120832048

T

C

intergenic

De novo

-

Yuen2017 G

NOTCH2

2-0704-003

chr1:
120563823-120563823

G

T

intronic

De novo

-

Yuen2017 G

NOTCH2

2-1288-003

chr1:
120611502-120611502

A

G

intronic

De novo

-

Yuen2017 G

NOTCH2

AU4199303

chr1:
120676361-120676361

C

A

intergenic

De novo

-

Yuen2017 G

NOTCH2

AU3610302

chr1:
120601899-120601899

C

G

intronic

De novo

-

Yuen2017 G

NOTCH2

AU3175302

chr1:
120634880-120634880

C

T

intergenic

De novo

-

Yuen2017 G

NOTCH2

5-0138-003

chr1:
120544753-120544753

G

C

intronic

De novo

-

Yuen2017 G

NOTCH2

7-0254-003

chr1:
120545212-120545220

TAGAAGAAG

TAGAAG

intronic

De novo

-

Yuen2017 G

NOTCH2

PN400474

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

2-1353-003

chr1:
120561007-120561007

T

C

intronic

De novo

-

Yuen2017 G

NOTCH2

1-0936-003

chr1:
120804699-120804699

C

T

intergenic

De novo

-

Yuen2017 G

NOTCH2

1-0255-003

chr1:
120627240-120627240

T

C

intergenic

De novo

-

Yuen2017 G

NOTCH2

AU4012302

chr1:
120629111-120629111

T

C

intergenic

De novo

-

Yuen2017 G

NOTCH2

AU4168306

chr1:
120545501-120545502

GT

GTT

intronic

De novo

-

Yuen2017 G

NOTCH2

PN400551

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

PN400560

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

2-1562-004

chr1:
120466387-120466387

G

A

exonic

De novo

nonsynonymous SNV

NM_024408

c.C4732T

p.R1578C

17.49

4.944E-5

Yuen2017 G

NOTCH2

7-0219-003

chr1:
120649129-120649129

G

A

intergenic

De novo

-

Yuen2017 G

NOTCH2

SP0033833

chr1:
120465226-120465226

G

A

intronic

De novo

-

1.649E-5

Fu2022 E

NOTCH2

7-0077-003

chr1:
120523078-120523078

C

T

intronic

De novo

-

Yuen2017 G

NOTCH2

SP0001934

chr1:
120462260-120462260

A

T

intronic

De novo

-

Fu2022 E

NOTCH2

AU2129303

chr1:
120676526-120676526

G

A

intergenic

De novo

-

Yuen2017 G

NOTCH2

PN400249

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

Shi2013:2

chr1:
120459206-120459206

G

A

exonic

Inherited

nonsynonymous SNV

NM_024408

c.C6139T

p.R2047W

15.59

1.651E-5

Shi2013 G

NOTCH2

AU4269301

chr1:
120766260-120766260

C

T

intergenic

De novo

-

Yuen2017 G

NOTCH2

2-1215-003

chr1:
120472994-120472994

T

C

intronic

De novo

-

Yuen2017 G

NOTCH2

AU0146302

chr1:
120529263-120529263

A

G

intronic

De novo

-

Yuen2017 G

NOTCH2

AU4197302

chr1:
120756699-120756699

C

A

intergenic

De novo

-

Yuen2017 G

NOTCH2

2-1222-003

chr1:
120632753-120632753

C

T

intergenic

De novo

-

Yuen2017 G

NOTCH2

PN400464

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

PN400562

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

2-1592-003

chr1:
120545213-120545213

A

G

intronic

De novo

-

Yuen2017 G

NOTCH2

1-0375-003

chr1:
120811777-120811777

A

G

intergenic

De novo

-

Yuen2017 G

NOTCH2

PN400528

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

7-0080-003

chr1:
120489578-120489578

C

T

intronic

De novo

-

Yuen2017 G

NOTCH2

AU3725302

chr1:
120536611-120536611

G

C

intronic

De novo

-

Yuen2017 G

NOTCH2

AU4234302

chr1:
120586935-120586935

G

C

intronic

De novo

-

Yuen2017 G

NOTCH2

AU036203

chr1:
120537296-120537297

AC

A

intronic

De novo

-

Yuen2017 G

NOTCH2

SP0105127

chr1:
120458856-120458856

G

A

exonic

De novo

synonymous SNV

NM_024408

c.C6489T

p.D2163D

-

Fu2022 E

NOTCH2

SP0095787

chr1:
120484329-120484329

G

A

exonic

De novo

nonsynonymous SNV

NM_001200001
NM_024408

c.C2801T
c.C2801T

p.S934F
p.S934F

2.901

-

Fu2022 E

NOTCH2

SP0125260

chr1:
120529755-120529755

C

T

intronic

De novo

-

6.695E-5

Fu2022 E

NOTCH2

2-0045-003

chr1:
120616927-120616927

T

C

intergenic

De novo

-

Yuen2017 G

NOTCH2

SP0016664

chr1:
120506348-120506348

A

G

exonic

De novo

synonymous SNV

NM_001200001
NM_024408

c.T1764C
c.T1764C

p.I588I
p.I588I

-

Fu2022 E

NOTCH2

PN400556

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

3-0456-000

chr1:
120695823-120695823

C

A

intergenic

De novo

-

Yuen2017 G

NOTCH2

PN400347

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

2-1364-003

chr1:
120825616-120825616

T

C

intergenic

De novo

-

Yuen2017 G

NOTCH2

1-0469-005

chr1:
120517716-120517716

T

C

intronic

De novo

-

Yuen2017 G

NOTCH2

AU4027306

chr1:
120557611-120557611

T

A

intronic

De novo

-

Yuen2017 G

NOTCH2

PN400280

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

PN400559

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 E

NOTCH2

PN400264

chr1:
120529697-120529697

C

A

exonic

Unknown

nonsynonymous SNV

NM_001200001
NM_024408

c.G760T
c.G760T

p.G254W
p.G254W

29.4

-

Leblond2019 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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