Variant Results

or

or

Results for "ARSJ"

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

ARSJ

2-1461-003

chr4:
115380030-115380030

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ARSJ

AU3517302

chr4:
115228989-115228989

A

G

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0099-003

chr4:
115389888-115389888

T

G

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0073-003

chr4:
114956158-114956158

T

C

intergenic

De novo

-

-

Yuen2017 G

ARSJ

7-0143-003

chr4:
114926091-114926091

G

A

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0169-003

chr4:
115477001-115477001

G

A

intergenic

De novo

-

-

Yuen2017 G

ARSJ

5-0129-003

chr4:
115453767-115453767

T

C

intergenic

De novo

-

-

Yuen2017 G

ARSJ

2-1407-003

chr4:
115052204-115052204

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ARSJ

1-0446-003

chr4:
115326431-115326441

AGCTGTGACTG

A

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0417-003

chr4:
115459637-115459637

T

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ARSJ

3-0307-000

chr4:
115009477-115009477

C

T

intergenic

De novo

-

-

Yuen2017 G

ARSJ

AU2458302

chr4:
115386290-115386290

A

T

intergenic

De novo

-

-

Yuen2017 G

ARSJ

AU2427302

chr4:
114911319-114911319

G

A

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0539-003

chr4:
115455542-115455542

G

A

intergenic

De novo

-

-

Yuen2017 G

ARSJ

AU4246304

chr4:
114912645-114912645

C

T

intergenic

De novo

-

-

Yuen2017 G

ARSJ

SP0056296

chr4:
114824488-114824488

G

T

exonic

De novo

nonsynonymous SNV

NM_024590

c.C742A

p.Q248K

1.561

Fu2022 E

ARSJ

2-1619-003

chr4:
115152287-115152287

A

AGATG

intergenic

De novo

-

-

Yuen2017 G

ARSJ

5-0111-003

chr4:
115341103-115341103

C

T

intergenic

De novo

-

-

Yuen2017 G

ARSJ

AU4233301

chr4:
114999569-114999583

TAAGAAGAAGAAGAA

TAAGAAGAAGAA

intergenic

De novo

-

-

Yuen2017 G

ARSJ

AU061104

chr4:
114842144-114842144

A

G

intronic

De novo

-

-

Yuen2017 G

ARSJ

AU1909304

chr4:
115170511-115170511

A

G

intergenic

De novo

-

-

Yuen2017 G

ARSJ

MT_69

chr4:
114824312-114824312

G

C

exonic

Maternal

nonsynonymous SNV

NM_024590

c.C918G

p.N306K

15.12

-

Toma2013 E

ARSJ

AU3808305

chr4:
115228318-115228318

T

C

intergenic

De novo

-

-

Yuen2017 G

ARSJ

AU3702307

chr4:
115304918-115304918

G

A

intergenic

De novo

-

-

Yuen2017 G

ARSJ

2-0309-005

chr4:
115241563-115241563

T

C

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0636-003

chr4:
115459127-115459127

A

G

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0906-003

chr4:
115108739-115108739

G

A

intergenic

De novo

-

-

Yuen2017 G

ARSJ

1-0547-003

chr4:
115391081-115391081

C

T

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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