Variant Results

or

or

Results for "AMPH"

Variant Events: 30

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

AMPH

2-1105-003

chr7:
38633945-38633945

G

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

AMPH

2-1382-003

chr7:
38704385-38704385

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

AMPH

AU0146301

chr7:
38511267-38511267

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AMPH

1-0286-004

chr7:
38634071-38634071

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AMPH

P1225

chr7:
38431556-38431556

G

A

exonic

De novo

synonymous SNV

NM_139316
NM_001635

c.C1545T
c.C1671T

p.N515N
p.N557N

1.046

Hashimoto2016 E

AMPH

PN400584

chr7:
38431556-38431556

G

A

exonic

De novo

synonymous SNV

NM_139316
NM_001635

c.C1545T
c.C1671T

p.N515N
p.N557N

1.046

Leblond2019 E

AMPH

1-0304-003

chr7:
38479273-38479273

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AMPH

AU2194301

chr7:
38471532-38471532

G

C

intronic

De novo

-

-

Trost2022 G

AMPH

5-1006-003

chr7:
38507493-38507493

A

G

intronic

De novo

-

-

Trost2022 G

AMPH

SP0050469

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G
Trost2022 G

AMPH

4-0062-003

chr7:
38573400-38573401

AG

GT

intronic

De novo

-

-

Trost2022 G

AMPH

7-0233-004

chr7:
38630068-38630068

C

G

intronic

De novo

-

-

Trost2022 G

AMPH

2-1186-003

chr7:
38601835-38601835

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AMPH

2-1579-003

chr7:
38565891-38565891

A

T

intronic

De novo

-

-

Trost2022 G

AMPH

2-1431-003

chr7:
38449125-38449125

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AMPH

2-1366-004

chr7:
38569766-38569766

C

TAACTTA

intronic

De novo

-

-

Trost2022 G

AMPH

3-0713-000

chr7:
38545636-38545636

A

C

intronic

De novo

-

-

Trost2022 G

AMPH

2-1374-003

chr7:
38611184-38611184

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AMPH

3-0461-000

chr7:
38564450-38564450

T

C

intronic

De novo

-

-

Trost2022 G

AMPH

2-1730-003

chr7:
38467754-38467754

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AMPH

MT_160.4

chr7:
38526511-38526511

T

C

intronic

De novo

-

-

Trost2022 G

AMPH

5-1042-003

chr7:
38530995-38530995

A

C

intronic

De novo

-

-

Trost2022 G

AMPH

3-0442-000

chr7:
38503222-38503222

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AMPH

5-1042-003

chr7:
38665621-38665621

T

A

intronic

De novo

-

-

Trost2022 G

AMPH

AU2320301

chr7:
38644754-38644754

T

C

intronic

De novo

-

-

Trost2022 G

AMPH

J4K7A_01

chr7:
38651725-38651725

C

T

intronic

De novo

-

-

Trost2022 G

AMPH

2-1179-003

chr7:
38630675-38630675

G

A

intronic

De novo

-

-

Trost2022 G

AMPH

7-0250-003

chr7:
38719900-38719900

A

G

intergenic

De novo

-

-

Yuen2017 G

AMPH

1-0695-003

chr7:
38644707-38644707

T

C

intronic

De novo

-

-

Trost2022 G

AMPH

SP0060858

chr7:
38431333-38431333

T

G

intronic

De novo

-

Fu2022 E
Trost2022 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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