Variant Results

or

Results for "PEAK1"

Variant Events: 36

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

-

Trost2022 G
Yuen2017 G

PEAK1

3-0385-000

chr15:
77443109-77443109

G

T

intronic

De novo

-

Trost2022 G

PEAK1

1-0046-003

chr15:
77509210-77509210

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PEAK1

1-0401-003

chr15:
77461465-77461465

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PEAK1

MT_16.3

chr15:
77544688-77544688

T

C

intronic

De novo

-

Trost2022 G

PEAK1

SP0041115

chr15:
77642794-77642794

G

A

intronic

De novo

-

Trost2022 G

PEAK1

REACH000582

chr15:
77505449-77505449

G

C

intronic

De novo

-

Trost2022 G

PEAK1

1-0486-003

chr15:
77518584-77518584

A

C

intronic

De novo

-

Trost2022 G

PEAK1

REACH000233

chr15:
77475124-77475124

G

A

intronic

De novo

-

Trost2022 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

1-0111-003

chr15:
77502940-77502940

G

C

intronic

De novo

-

Trost2022 G

PEAK1

MSSNG00443-003

chr15:
77468241-77468241

T

C

intronic

De novo

-

Trost2022 G

PEAK1

2-1525-003

chr15:
77478955-77478955

T

G

intronic

De novo

-

Yuen2017 G

PEAK1

REACH000233

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PEAK1

SP0046250

chr15:
77710177-77710177

G

A

intronic

De novo

-

Trost2022 G

PEAK1

AU3506303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PEAK1

AU2310301

chr15:
77699524-77699524

G

A

intronic

De novo

-

Trost2022 G

PEAK1

AU2463301

chr15:
77704173-77704173

C

T

intronic

De novo

-

Trost2022 G

PEAK1

3-0117-000

chr15:
77686139-77686139

T

C

intronic

De novo

-

Trost2022 G

PEAK1

1-0965-003

chr15:
77561617-77561617

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PEAK1

SJD_46.3

chr15:
77688415-77688415

G

A

intronic

De novo

-

Trost2022 G

PEAK1

1-0215-006

chr15:
77650719-77650719

C

T

intronic

De novo

-

Trost2022 G
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

-

Trost2022 G
Yuen2017 G

PEAK1

1-0068-003

chr15:
77619868-77619868

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PEAK1

1-0636-003

chr15:
77528366-77528366

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PEAK1

AU3857301

chr15:
77708915-77708915

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PEAK1

1-0377-003

chr15:
77634421-77634421

C

A

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
Trost2022 G
Zhou2022 GE

PEAK1

1-0344-003

chr15:
77576115-77576115

T

C

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

SP0096443

chr15:
77407420-77407420

G

A

exonic

De novo

nonsynonymous SNV

NM_024776

c.C4319T

p.A1440V

5.801

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PEAK1

SP0097493

chr15:
77406860-77406860

G

C

exonic

De novo

nonsynonymous SNV

NM_024776

c.C4879G

p.R1627G

11.44

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PEAK1

2-1526-003

chr15:
77558394-77558394

T

A

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

1.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

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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