Variant Results

or

or

Results for "PEAK1"

Variant Events: 22

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

PEAK1

AU3713302

chr15:
77612589-77612589

T

C

intronic

De novo

-

-

Yuen2017 G

PEAK1

1-0046-003

chr15:
77509210-77509210

G

T

intronic

De novo

-

-

Yuen2017 G

PEAK1

1-0401-003

chr15:
77461465-77461465

C

T

intronic

De novo

-

-

Yuen2017 G

PEAK1

AU3371302

chr15:
77478561-77478561

G

A

intronic

De novo

-

-

Yuen2017 G

PEAK1

1-0708-003

chr15:
77624305-77624305

G

A

intronic

De novo

-

-

Yuen2017 G

PEAK1

1-0068-003

chr15:
77619868-77619868

T

G

intronic

De novo

-

-

Yuen2017 G

PEAK1

1-0636-003

chr15:
77528366-77528366

A

T

intronic

De novo

-

-

Yuen2017 G

PEAK1

A10

chr15:
77706276-77706276

T

G

intronic

De novo

-

-

Wu2018 G

PEAK1

1-0551-004

chr15:
77609422-77609422

C

CAAAT

intronic

De novo

-

-

Yuen2017 G

PEAK1

AU3857301

chr15:
77708915-77708915

G

T

intronic

De novo

-

-

Yuen2017 G

PEAK1

1-0377-003

chr15:
77634421-77634421

C

A

intronic

De novo

-

-

Yuen2017 G

PEAK1

2-1525-003

chr15:
77478955-77478955

T

G

intronic

De novo

-

-

Yuen2017 G

PEAK1

SP0016966

chr15:
77407083-77407083

T

C

exonic

De novo

nonsynonymous SNV

NM_024776

c.A4656G

p.I1552M

17.74

-

Fu2022 E

PEAK1

1-0344-003

chr15:
77576115-77576115

T

C

intronic

De novo

-

-

Yuen2017 G

PEAK1

AU3506303

chr15:
77674769-77674770

TA

TAA

intronic

De novo

-

-

Yuen2017 G

PEAK1

P1244

chr15:
77472860-77472860

G

A

exonic

De novo

nonsynonymous SNV

NM_024776

c.C1409T

p.P470L

16.44

-

Hashimoto2016 E

PEAK1

1-0965-003

chr15:
77561617-77561617

C

A

intronic

De novo

-

-

Yuen2017 G

PEAK1

SP0096443

chr15:
77407420-77407420

G

A

exonic

De novo

nonsynonymous SNV

NM_024776

c.C4319T

p.A1440V

5.801

-

Fu2022 E

PEAK1

SP0097493

chr15:
77406860-77406860

G

C

exonic

De novo

nonsynonymous SNV

NM_024776

c.C4879G

p.R1627G

11.44

-

Fu2022 E

PEAK1

2-1526-003

chr15:
77558394-77558394

T

A

intronic

De novo

-

-

Yuen2017 G

PEAK1

1-0215-006

chr15:
77650719-77650719

C

T

intronic

De novo

-

-

Yuen2017 G

PEAK1

SP0014187

chr15:
77450865-77450865

C

T

exonic

De novo

nonsynonymous SNV

NM_024776

c.G3311A

p.S1104N

22.8

Fu2022 E

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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