Variant Results

or

Results for "NOTCH3"

Variant Events: 15

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

NOTCH3

2-1085-003

chr19:
15278100-15278100

G

C

exonic

De novo

nonsynonymous SNV

NM_000435

c.C5322G

p.D1774E

1.353

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

NOTCH3

REACH000198

chr19:
15275376-15275376

C

A

intronic

De novo

-

Trost2022 G

NOTCH3

1-0142-005

chr19:
15287862-15287864

AAG

CAC

intronic

De novo

-

Trost2022 G

NOTCH3

2-1567-004

chr19:
15295323-15295323

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOTCH3

JASD_Fam0030

chr19:
15290891-15290891

T

C

exonic

De novo

nonsynonymous SNV

NM_000435

c.A3319G

p.M1107V

3.082

-

Takata2018 E

NOTCH3

5330

chr19:
15290235-15290235

C

G

exonic

De novo

nonsynonymous SNV

NM_000435

c.G3400C

p.G1134R

22.8

-

Trost2022 G

NOTCH3

1-0479-006

chr19:
15283787-15283787

C

T

intronic

De novo

-

Yuen2017 G

NOTCH3

1-0142-005

chr19:
15287870-15287870

G

A

intronic

De novo

-

Trost2022 G

NOTCH3

1-0142-005

chr19:
15287875-15287877

TCC

CCT

intronic

De novo

-

Trost2022 G

NOTCH3

11193.p1

chr19:
15290235-15290235

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_000435

c.G3400C

p.G1134R

22.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Zhou2022 GE

NOTCH3

SP0094077

chr19:
15271601-15271601

T

C

exonic

De novo

nonsynonymous SNV

NM_000435

c.A6838G

p.M2280V

4.864

1.658E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

NOTCH3

SP0143361

chr19:
15302993-15302993

G

A

exonic

De novo

nonsynonymous SNV

NM_000435

c.C457T

p.R153C

20.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NOTCH3

AU062204

chr19:
15304404-15304404

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOTCH3

SP0105377

chr19:
15278262-15278262

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

NOTCH3

AU006A

chr19:
15276256-15276256

G

A

exonic

De novo

nonsynonymous SNV

NM_000435

c.C5738T

p.A1913V

26.4

3.308E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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