Variant Results

or

Results for "PRAG1"

Variant Events: 42

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

PRAG1

AU1668302

chr8:
8378562-8378562

C

A

intergenic

De novo

-

Yuen2017 G

PRAG1

7-0249-004

chr8:
8266859-8266859

T

C

intergenic

De novo

-

Yuen2017 G

PRAG1

AU076704

chr8:
8453325-8453325

A

C

intergenic

De novo

-

Yuen2017 G

PRAG1

1-0169-004

chr8:
8393379-8393379

A

C

intergenic

De novo

-

Yuen2017 G

PRAG1

1-0139-003

chr8:
8444185-8444185

G

A

intergenic

De novo

-

Yuen2017 G

PRAG1

SP0108710

chr8:
8235668-8235668

G

C

intronic

De novo

-

Fu2022 E

PRAG1

2-0149-005

chr8:
8398670-8398670

G

A

intergenic

De novo

-

Yuen2017 G

PRAG1

2-1336-004

chr8:
8336740-8336740

G

T

intergenic

De novo

-

Yuen2017 G

PRAG1

Cukier2014:17545

chr8:
8185746-8185746

T

C

exonic

Unknown

nonsynonymous SNV

NM_001080826

c.A2546G

p.H849R

17.73

0.0103

Cukier2014 E

PRAG1

09C99952

chr8:
8239148-8239148

C

T

exonic

De novo

nonsynonymous SNV

NM_001080826

c.G110A

p.R37Q

19.21

8.34E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PRAG1

7-0420-003

chr8:
8243928-8243928

C

G

intergenic

De novo

-

Trost2022 G

PRAG1

7-0128-003

chr8:
8399635-8399635

G

C

intergenic

De novo

-

Yuen2017 G

PRAG1

6248

chr8:
8176178-8176178

G

C

exonic

De novo

nonsynonymous SNV

NM_001080826

c.C3707G

p.A1236G

27.3

-

Trost2022 G

PRAG1

2-1383-003

chr8:
8328823-8328823

C

T

intergenic

De novo

-

Yuen2017 G

PRAG1

7-0274-003

chr8:
8208594-8208594

A

T

intronic

De novo

-

Trost2022 G

PRAG1

1-0488-003

chr8:
8516973-8516975

ATT

AT

intergenic

De novo

-

Yuen2017 G

PRAG1

12449.p1

chr8:
8549276-8549276

C

A

intergenic

De novo

-

Turner2016 G

PRAG1

1-0757-003

chr8:
8530709-8530709

C

T

intergenic

De novo

-

Yuen2017 G

PRAG1

1-0898-003

chr8:
8188620-8188620

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRAG1

7-0128-003

chr8:
8402648-8402648

G

A

intergenic

De novo

-

Yuen2017 G

PRAG1

2-1290-003

chr8:
8239148-8239148

C

T

exonic

De novo

nonsynonymous SNV

NM_001080826

c.G110A

p.R37Q

19.21

8.34E-5

Yuen2017 G
Zhou2022 GE

PRAG1

2-1632-003

chr8:
8536587-8536587

G

A

intergenic

De novo

-

Yuen2017 G

PRAG1

AU1742302

chr8:
8490130-8490130

G

A

intergenic

De novo

-

Yuen2017 G

PRAG1

AU046904

chr8:
8308000-8308000

T

A

intergenic

De novo

-

Yuen2017 G

PRAG1

1-0144-004

chr8:
8417083-8417083

A

T

intergenic

De novo

-

Yuen2017 G

PRAG1

AU4239301

chr8:
8481168-8481168

C

T

intergenic

De novo

-

Yuen2017 G

PRAG1

2-1456-004

chr8:
8315867-8315867

A

G

intergenic

De novo

-

Yuen2017 G

PRAG1

13926.p1

chr8:
8176178-8176178

G

C

exonic

De novo

nonsynonymous SNV

NM_001080826

c.C3707G

p.A1236G

27.3

-

Satterstrom2020 E

PRAG1

AU065304

chr8:
8511624-8511624

C

T

intergenic

De novo

-

Yuen2017 G

PRAG1

2-0309-004

chr8:
8409860-8409860

C

A

intergenic

De novo

-

Yuen2017 G

PRAG1

A9

chr8:
8185509-8185509

G

A

exonic

De novo

nonsynonymous SNV

NM_001080826

c.C2783T

p.S928F

15.32

8.823E-6

Jiao2019 E

PRAG1

2-1426-003

chr8:
8436073-8436079

ACCCCCC

ACCCCCCC

intergenic

De novo

-

Yuen2017 G

PRAG1

7-0133-003

chr8:
8463985-8463985

G

A

intergenic

De novo

-

Yuen2017 G

PRAG1

AU1952305

chr8:
8192173-8192173

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRAG1

2-1127-003

chr8:
8217370-8217370

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRAG1

7-0127-003

chr8:
8404744-8404744

G

C

intergenic

De novo

-

Yuen2017 G

PRAG1

7-0127-003

chr8:
8405299-8405299

T

A

intergenic

De novo

-

Yuen2017 G

PRAG1

AU012804

chr8:
8522766-8522766

C

T

intergenic

De novo

-

Yuen2017 G

PRAG1

AU4092302

chr8:
8300607-8300607

G

A

intergenic

De novo

-

Yuen2017 G

PRAG1

2-1127-003

chr8:
8214555-8214555

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRAG1

2-1127-003

chr8:
8214692-8214692

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRAG1

AU3808305

chr8:
8315426-8315426

G

A

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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