Variant Results

or

or

Results for "SEMA3E"

Variant Events: 31

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

SEMA3E

AU060403

chr7:
83014437-83014437

T

G

intronic

De novo

-

-

Yuen2017 G

SEMA3E

2-0219-004

chr7:
82995196-82995196

A

G

UTR3

De novo

-

-

Yuen2017 G

SEMA3E

2-1382-003

chr7:
83473535-83473535

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SEMA3E

AU003406

chr7:
83086945-83086945

C

T

intronic

De novo

-

-

Yuen2017 G

SEMA3E

2-0007-003

chr7:
83574057-83574057

C

T

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

1-0218-003

chr7:
83128577-83128577

G

A

intronic

De novo

-

-

Yuen2017 G

SEMA3E

1-0186-004

chr7:
83500604-83500604

T

C

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

3-0482-000

chr7:
82995520-82995520

T

C

UTR3

De novo

-

-

Yuen2017 G

SEMA3E

5-0015-004

chr7:
83426159-83426159

T

TA

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

2-0011-004

chr7:
83152955-83152955

C

T

intronic

De novo

-

-

Yuen2017 G

SEMA3E

5-0017-004

chr7:
83310248-83310248

G

C

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

AU1894304

chr7:
83140423-83140423

A

T

intronic

De novo

-

-

Yuen2017 G

SEMA3E

1-0567-003

chr7:
83500604-83500604

T

C

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

1-0969-003

chr7:
83261314-83261314

A

T

intronic

De novo

-

-

Yuen2017 G

SEMA3E

DEASD_1003_001

chr7:
83032035-83032035

G

A

exonic

De novo

synonymous SNV

NM_001178129
NM_012431

c.C876T
c.C1056T

p.A292A
p.A352A

-

-

Fu2022 E
Satterstrom2020 E

SEMA3E

1-0453-003

chr7:
83183742-83183742

G

A

intronic

De novo

-

-

Yuen2017 G

SEMA3E

5-0014-003

chr7:
83269081-83269081

C

A

intronic

De novo

-

-

Yuen2017 G

SEMA3E

2-0132-004

chr7:
83300745-83300745

C

G

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

2-1245-003

chr7:
83097682-83097682

A

G

intronic

De novo

-

-

Yuen2017 G

SEMA3E

14139.p1

chr7:
83079395-83079395

C

G

intronic

Unknown

-

-

Werling2018 G

SEMA3E

12793.p1

chr7:
83083539-83083539

A

T

intronic

De novo

-

-

Turner2016 G

SEMA3E

AU071804

chr7:
83554810-83554826

GGTGTGTGTGTGTGTGT

GGTGTGTGTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

2-1620-004

chr7:
83535279-83535279

T

TTA

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

12680.p1

Complex Event; expand row to view variants

De novo

-

-

Turner2016 G
Turner2016 G

SEMA3E

1-0414-005

chr7:
83500604-83500604

T

C

intergenic

De novo

-

-

Yuen2017 G

SEMA3E

12793.p1

chr7:
83083561-83083561

A

G

intronic

De novo

-

-

Turner2016 G

SEMA3E

2-1444-003

chr7:
83369946-83369946

C

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SEMA3E

13539.p1

chr7:
83273453-83273453

A

G

intronic

De novo

-

-

Turner2016 G

SEMA3E

AU4233301

chr7:
83095970-83095970

T

C

intronic

De novo

-

-

Yuen2017 G

SEMA3E

2-0033-003

chr7:
83266733-83266733

A

G

intronic

De novo

-

-

Yuen2017 G

SEMA3E

7-0008-003

chr7:
83549138-83549138

T

C

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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