Variant Results

or

or

Results for "KDR"

Variant Events: 28

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

KDR

286-05-103511

chr4:
55972853-55972855

CTT

C

exonic

De novo

frameshift deletion

NM_002253

c.1535_1536del

p.K512fs

-

-

Fu2022 E
Satterstrom2020 E

KDR

14047.p1

chr4:
55953925-55953925

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_002253

c.G3511A

p.D1171N

25.9

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E

KDR

11917.p1

chr4:
55968172-55968172

G

T

exonic

De novo

synonymous SNV

NM_002253

c.C2158A

p.R720R

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

KDR

10C109077

chr4:
55981593-55981593

A

G

intronic

De novo

-

Kosmicki2017 E

KDR

SSC04908

chr4:
55968172-55968172

G

T

exonic

De novo

synonymous SNV

NM_002253

c.C2158A

p.R720R

-

-

Fu2022 E
Lim2017 E

KDR

SSC10359

chr4:
55953925-55953925

C

T

exonic

Mosaic

nonsynonymous SNV

NM_002253

c.G3511A

p.D1171N

25.9

-

Lim2017 E

KDR

1-0551-004

chr4:
55972456-55972456

G

A

intronic

De novo

-

-

Yuen2017 G

KDR

1-0092-003

chr4:
56187255-56187255

A

G

intergenic

De novo

-

-

Yuen2017 G

KDR

7-0023-003

chr4:
55957668-55957668

T

C

intronic

De novo

-

-

Yuen2017 G

KDR

2-1485-004

chr4:
56097541-56097541

C

T

intergenic

De novo

-

-

Yuen2017 G

KDR

2-1735-003

chr4:
55993598-55993598

C

T

intergenic

De novo

-

-

Yuen2017 G

KDR

2-1269-003

chr4:
56169321-56169321

A

G

intergenic

De novo

-

-

Yuen2017 G

KDR

3-0307-000

chr4:
56203888-56203888

C

T

intergenic

De novo

-

-

Yuen2017 G

KDR

AU066403

chr4:
56181715-56181715

C

A

intergenic

De novo

-

-

Yuen2017 G

KDR

74-0265

chr4:
56081458-56081458

C

G

intergenic

De novo

-

-

Michaelson2012 G

KDR

1-0296-003

chr4:
56067966-56067966

T

C

intergenic

De novo

-

-

Yuen2017 G

KDR

2-1730-003

chr4:
56125555-56125555

A

G

intergenic

De novo

-

-

Yuen2017 G

KDR

AU3787303

chr4:
55956068-55956068

G

A

intronic

De novo

-

-

Yuen2017 G

KDR

13177.p1

chr4:
55968014-55968014

C

G

intronic

De novo

-

Satterstrom2020 E

KDR

AU3951302

chr4:
56162726-56162726

A

G

intergenic

De novo

-

-

Yuen2017 G

KDR

AU3900301

chr4:
55959474-55959474

C

T

intronic

De novo

-

-

Yuen2017 G

KDR

1-0022-004

chr4:
56105262-56105262

T

C

intergenic

De novo

-

-

Yuen2017 G

KDR

1-0458-003

chr4:
56111266-56111266

C

A

intergenic

De novo

-

-

Yuen2017 G

KDR

1-0296-004

chr4:
56067966-56067966

T

C

intergenic

De novo

-

-

Yuen2017 G

KDR

2-1184-003

chr4:
56196730-56196730

C

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KDR

SP0018795

chr4:
55968125-55968125

G

A

exonic

De novo

synonymous SNV

NM_002253

c.C2205T

p.Y735Y

-

Fu2022 E

KDR

2-1184-003

chr4:
56196723-56196723

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KDR

2-1521-003

chr4:
55949868-55949868

C

T

intronic

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
	More