Variant Results

or

or

Results for "PREX1"

Variant Events: 29

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

PREX1

AU046904

chr20:
47390177-47390177

G

A

intronic

De novo

-

-

Yuen2017 G

PREX1

2-1300-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

PREX1

2-1407-003

chr20:
47478489-47478489

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

PREX1

SP0040534

chr20:
47296282-47296282

C

A

exonic

nonsynonymous SNV

NM_020820

c.G1446T

p.K482N

18.98

-

Antaki2022 GE

PREX1

7-0095-004

chr20:
47465820-47465820

C

T

intergenic

De novo

-

-

Yuen2017 G

PREX1

AU1404302

chr20:
47416193-47416193

A

C

intronic

De novo

-

-

Yuen2017 G

PREX1

SP0040534

chr20:
47296262-47296262

T

A

exonic

nonsynonymous SNV

NM_020820

c.A1466T

p.Q489L

21.7

-

Antaki2022 GE

PREX1

1-0139-005

chr20:
47535172-47535172

A

G

intergenic

De novo

-

-

Yuen2017 G

PREX1

1-0218-003

chr20:
47422683-47422683

C

T

intronic

De novo

-

-

Yuen2017 G

PREX1

1-0452-003

chr20:
47247795-47247795

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PREX1

4B858

chr20:
47253073-47253073

G

A

exonic

De novo

synonymous SNV

NM_020820

c.C4095T

p.R1365R

-

-

Fu2022 E
Satterstrom2020 E

PREX1

2-0090-003

chr20:
47393555-47393555

T

G

intronic

De novo

-

-

Yuen2017 G

PREX1

1-0453-003

chr20:
47388158-47388158

G

A

intronic

De novo

-

-

Yuen2017 G

PREX1

AU3997302

chr20:
47330045-47330045

G

T

intronic

De novo

-

-

Yuen2017 G

PREX1

AU2129303

chr20:
47317727-47317732

GTATAT

GTATATAT

intronic

De novo

-

-

Yuen2017 G

PREX1

AU3907302

chr20:
47308181-47308181

G

C

intronic

De novo

-

-

Yuen2017 G

PREX1

2-1502-003

chr20:
47411548-47411548

T

A

intronic

De novo

-

-

Yuen2017 G

PREX1

1-0261-004

chr20:
47438633-47438633

T

C

intronic

De novo

-

-

Yuen2017 G

PREX1

SJD_10

chr20:
47271842-47271842

T

C

exonic

Maternal

nonsynonymous SNV

NM_020820

c.A2195G

p.Y732C

14.75

Toma2013 E

PREX1

G01-GEA-289-HI

chr20:
47295908-47295908

G

A

exonic

De novo

nonsynonymous SNV

NM_020820

c.C1579T

p.P527S

22.5

-

Fu2022 E
Satterstrom2020 E

PREX1

11341.p1

chr20:
47361714-47361714

C

T

intronic

De novo

-

Turner2016 G

PREX1

SP0001571

chr20:
47309210-47309210

C

G

exonic

De novo

nonsynonymous SNV

NM_020820

c.G1036C

p.A346P

33.0

-

Feliciano2019 E
Fu2022 E

PREX1

2-1459-003

chr20:
47520856-47520856

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

PREX1

SP0073005

chr20:
47305152-47305152

T

G

intronic

De novo

-

-

Fu2022 E

PREX1

2-0110-003

chr20:
47391335-47391335

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PREX1

5-0065-003

chr20:
47399259-47399259

G

A

intronic

De novo

-

-

Yuen2017 G

PREX1

1-0389-004

chr20:
47496985-47496985

A

G

intergenic

De novo

-

-

Yuen2017 G

PREX1

2-1148-004

chr20:
47290227-47290227

A

AC

intronic

De novo

-

-

Yuen2017 G

PREX1

1-0353-003

chr20:
47500437-47500437

G

T

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
	More