Variant Results

or

or

Results for "CLEC14A"

Variant Events: 26

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

CLEC14A

5-0137-003

chr14:
39194738-39194738

T

C

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

1-0231-004

chr14:
39162391-39162391

A

G

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

2-1169-004

chr14:
38880002-38880002

T

C

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

7-0002-003

chr14:
39088590-39088590

T

TC

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

AU0540301

chr14:
39016030-39016030

C

T

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

AU031003

chr14:
39134172-39134172

A

C

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

2-1626-003

chr14:
39105819-39105819

G

A

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

2-1408-004

chr14:
39051831-39051831

C

T

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

2-1283-003

chr14:
38797465-38797466

GA

G

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

AU3905301

chr14:
39204988-39204988

T

C

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

AU2863302

chr14:
38975996-38975996

T

C

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

SJD_10

chr14:
38724806-38724806

C

T

exonic

Maternal

nonsynonymous SNV

NM_175060

c.G422A

p.R141Q

16.82

Toma2013 E

CLEC14A

74-0075

chr14:
39019415-39019415

G

T

intergenic

De novo

-

-

Michaelson2012 G

CLEC14A

1-0073-003

chr14:
39151522-39151522

G

A

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

AU3634301

chr14:
39046018-39046018

C

G

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

5-0088-003

chr14:
38724800-38724800

C

T

exonic

De novo

nonsynonymous SNV

NM_175060

c.G428A

p.C143Y

20.5

-

Yuen2017 G

CLEC14A

AU062204

chr14:
38952184-38952184

A

G

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

7-0251-003

chr14:
38957023-38957023

G

A

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

AU3885304

chr14:
38931345-38931377

AGGTTTCTAATATAGGTACACATATGCCATGGT

AGGT

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

2-1283-004

chr14:
38797465-38797466

GA

G

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

2-1327-004

chr14:
38931636-38931636

A

ATGGTG

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

1-0368-004

chr14:
38804245-38804245

A

G

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

AU4067301

chr14:
38845945-38845945

G

A

intergenic

De novo

-

-

Yuen2017 G

CLEC14A

SP0043925

chr14:
38725072-38725072

C

T

exonic

De novo

synonymous SNV

NM_175060

c.G156A

p.E52E

-

-

Fu2022 E

CLEC14A

SP0020343

chr14:
38723911-38723911

G

T

exonic

De novo

synonymous SNV

NM_175060

c.C1317A

p.G439G

-

-

Fu2022 E

CLEC14A

2-1280-003

chr14:
38864836-38864836

C

A

intergenic

De novo

-

-

Yuen2016 G
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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