Variant Results

or

Results for "PRDM2"

Variant Events: 56

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

PRDM2

2-0158-003

chr1:
14392083-14392083

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1509-003

chr1:
14058512-14058518

ACCCCCC

ACCCCC

intronic

De novo

-

Yuen2017 G

PRDM2

AU3861302

chr1:
14501692-14501692

G

C

intergenic

De novo

-

Yuen2017 G

PRDM2

AU2100302

chr1:
14683488-14683488

T

C

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0394-003

chr1:
14804813-14804833

AGAAGGAAGGAAGGAAGGAAG

AGAAGGAAGGAAGGAAG

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0757-003

chr1:
14902773-14902773

A

G

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0394-003

chr1:
14121141-14121141

C

G

intronic

De novo

-

Yuen2017 G

PRDM2

1-0652-004

chr1:
14605404-14605404

A

G

intergenic

De novo

-

Yuen2017 G

PRDM2

AU2089302

chr1:
14036555-14036555

A

G

intronic

De novo

-

Yuen2017 G

PRDM2

2-1416-004

chr1:
14584245-14584245

C

A

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1254-003

chr1:
14513164-14513164

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PRDM2

2-1170-003

chr1:
14906912-14906912

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1501-003

chr1:
14616844-14616844

A

G

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1702-004

chr1:
14460065-14460065

A

G

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1427-003

chr1:
14583560-14583560

T

C

intergenic

De novo

-

Yuen2017 G

PRDM2

AU4243302

chr1:
14908595-14908595

T

G

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0609-003

chr1:
14902018-14902018

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

2-0307-004

chr1:
14860042-14860042

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

2-0319-004

chr1:
14038050-14038050

A

G

intronic

De novo

-

Yuen2017 G

PRDM2

2-0063-003

chr1:
14535863-14535863

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1195-003

chr1:
14626488-14626488

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PRDM2

2-1168-003

chr1:
14462178-14462178

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PRDM2

1-0380-003

chr1:
14087106-14087106

G

A

intronic

De novo

-

Yuen2017 G

PRDM2

2-1363-003

chr1:
14810149-14810149

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PRDM2

AU076705

chr1:
14317373-14317373

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0433-003

chr1:
14362217-14362217

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

AU3951301

chr1:
14040795-14040795

A

G

intronic

De novo

-

Yuen2017 G

PRDM2

1-0632-003

chr1:
14208872-14208872

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

A15

chr1:
14902018-14902018

G

A

intergenic

De novo

-

Wu2018 G

PRDM2

1-0079-008

chr1:
14162235-14162235

A

G

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0303-003

chr1:
14437759-14437759

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0345-003

chr1:
14252915-14252915

A

G

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0400-003

chr1:
14906392-14906392

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PRDM2

1-0218-004

chr1:
14893397-14893397

T

C

intergenic

De novo

-

Yuen2017 G

PRDM2

7-0103-003

chr1:
14730987-14730987

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0006-004

chr1:
14439030-14439030

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

AU009805

chr1:
14896040-14896040

G

C

intergenic

De novo

-

Yuen2017 G

PRDM2

AU0786305

chr1:
14308423-14308423

C

G

intergenic

De novo

-

Yuen2017 G

PRDM2

iHART2917

chr1:
14068588-14068588

C

A

exonic

Maternal

stopgain

NM_001135610
NM_012231
NM_015866

c.C320A
c.C320A
c.C320A

p.S107X
p.S107X
p.S107X

46.0

-

Ruzzo2019 G

PRDM2

13393.p1

chr1:
14578442-14578442

C

T

intergenic

De novo

-

Turner2016 G

PRDM2

14370.p1

chr1:
14437084-14437084

A

C

intergenic

De novo

-

Turner2016 G

PRDM2

2-1526-003

chr1:
14773138-14773138

A

C

intergenic

De novo

-

Yuen2017 G

PRDM2

AU4462302

chr1:
14214458-14214458

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1176-003

chr1:
14336138-14336138

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

AU003403

chr1:
14180627-14180627

T

C

intergenic

De novo

-

Yuen2017 G

PRDM2

7-0249-003

chr1:
14848419-14848419

A

G

intergenic

De novo

-

Yuen2017 G

PRDM2

2-0219-004

chr1:
14074316-14074316

G

C

intronic

De novo

-

Yuen2017 G

PRDM2

SP0027460

chr1:
14057533-14057533

T

G

exonic

De novo

synonymous SNV

NM_001135610
NM_012231
NM_015866

c.T48G
c.T48G
c.T48G

p.A16A
p.A16A
p.A16A

-

Fu2022 E

PRDM2

1-0668-003

chr1:
14610145-14610145

T

C

intergenic

De novo

-

Yuen2017 G

PRDM2

AU073006

chr1:
14861179-14861179

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0863-003

chr1:
14325766-14325766

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

2-0242-005

chr1:
14177037-14177037

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0368-004

chr1:
14548220-14548220

G

A

intergenic

De novo

-

Yuen2017 G

PRDM2

2-1337-003

chr1:
14768126-14768126

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

1-0382-004

chr1:
14647281-14647281

C

T

intergenic

De novo

-

Yuen2017 G

PRDM2

AU4150301

chr1:
14196435-14196438

TTCT

TT

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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