Variant Results

or

Results for "PRDM16"

Variant Events: 88

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

PRDM16

11892.p1

chr1:
3102911-3102911

G

A

exonic

nonsynonymous SNV

NM_022114
NM_199454

c.G260A
c.G260A

p.R87Q
p.R87Q

21.1

8.607E-6

Zhou2022 GE

PRDM16

MC-035-3

chr1:
3331149-3331149

G

T

exonic

Maternal

nonsynonymous SNV

NM_022114
NM_199454

c.G2629T
c.G2629T

p.D877Y
p.D877Y

18.02

8.613E-6

Tuncay2023 G

PRDM16

2-1358-003

chr1:
3339092-3339092

G

T

intronic

De novo

-

Yuen2017 G

PRDM16

3-0604-000

chr1:
3347587-3347587

G

A

exonic

De novo

nonsynonymous SNV

NM_022114
NM_199454

c.G3436A
c.G3436A

p.A1146T
p.A1146T

0.014

2.93E-5

Trost2022 G
Zhou2022 GE

PRDM16

REACH000322

chr1:
3301795-3301795

G

A

exonic

De novo

nonsynonymous SNV

NM_022114
NM_199454

c.G518A
c.G518A

p.R173H
p.R173H

21.4

8.327E-6

Trost2022 G
Zhou2022 GE

PRDM16

1-0367-003

chr1:
3160055-3160055

C

T

intronic

De novo

-

Yuen2017 G

PRDM16

1-0465-003

chr1:
3177257-3177257

T

TGATGGCGGC

intronic

De novo

-

Yuen2017 G

PRDM16

1-0004-003

chr1:
3323170-3323170

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

2-1371-003

chr1:
3253178-3253180

CTG

C

intronic

De novo

-

Yuen2016 G

PRDM16

MC-035-3

chr1:
3329057-3329057

G

A

exonic

Paternal

nonsynonymous SNV

NM_022114
NM_199454

c.G2296A
c.G2296A

p.G766S
p.G766S

1.168

3.0E-4

Tuncay2023 G

PRDM16

13722.p1

chr1:
3322220-3322220

G

C

intronic

De novo

-

Krumm2015 E
Zhou2022 GE

PRDM16

2-1429-003

chr1:
3177337-3177337

G

T

intronic

De novo

-

Yuen2017 G

PRDM16

14544.p1

chr1:
3331090-3331090

G

C

intronic

De novo

-

Satterstrom2020 E

PRDM16

2-1244-003

chr1:
3147942-3147942

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

AU4093304

chr1:
3263020-3263020

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

AU3903301

chr1:
3086719-3086719

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

2-1283-004

chr1:
3177337-3177337

G

T

intronic

De novo

-

Yuen2017 G

PRDM16

MSSNG00078-003

chr1:
2988461-2988461

G

A

intronic

De novo

-

Trost2022 G

PRDM16

3-0447-000

chr1:
3325629-3325629

G

A

intronic

De novo

-

Yuen2017 G

PRDM16

AU4015303

chr1:
3263582-3263582

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

5-0119-003

chr1:
3063241-3063241

G

A

intronic

De novo

-

Trost2022 G

PRDM16

MSSNG00043-003

chr1:
3062338-3062338

C

T

intronic

De novo

-

Trost2022 G

PRDM16

REACH000514

chr1:
3073164-3073164

A

G

intronic

De novo

-

Trost2022 G

PRDM16

MSSNG00015-003

chr1:
3063372-3063372

T

C

intronic

De novo

-

Trost2022 G

PRDM16

MT_70.3

chr1:
3037895-3037895

G

A

intronic

De novo

-

Trost2022 G

PRDM16

7-0178-003

chr1:
3010372-3010372

G

A

intronic

De novo

-

Trost2022 G

PRDM16

2-0122-003

chr1:
3325159-3325159

T

TGTGAGAGTGTGAGTGTGAGCAC

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

MT_15.3

chr1:
3062259-3062259

G

A

intronic

De novo

-

Trost2022 G

PRDM16

AU071203

chr1:
3017288-3017288

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

MT_99.3

chr1:
3047908-3047908

G

T

intronic

De novo

-

Trost2022 G

PRDM16

1-0384-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

1-1215-003

chr1:
3121514-3121514

C

T

intronic

De novo

-

Trost2022 G

PRDM16

AU2162302

chr1:
3341213-3341213

A

AT

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

1-1180-003

chr1:
3111901-3111901

G

A

intronic

De novo

-

Trost2022 G

PRDM16

2-1458-003

chr1:
3127384-3127384

C

T

intronic

De novo

-

Trost2022 G

PRDM16

3-0833-000

chr1:
3126012-3126012

C

T

intronic

De novo

-

Trost2022 G

PRDM16

1-0700-005A

chr1:
3098332-3098332

A

G

intronic

De novo

-

Trost2022 G

PRDM16

MSSNG00346-004

chr1:
3091358-3091358

G

A

intronic

De novo

-

Trost2022 G

PRDM16

MT_57.3

chr1:
3106900-3106900

A

C

intronic

De novo

-

Trost2022 G

PRDM16

1-0171-005

chr1:
3101248-3101249

AC

A

intronic

De novo

-

Trost2022 G

PRDM16

1-0700-005A

chr1:
3215718-3215718

G

T

intronic

De novo

-

Trost2022 G

PRDM16

7-0469-003

chr1:
3213652-3213652

C

T

intronic

De novo

-

Trost2022 G

PRDM16

1-1000-003

chr1:
3195211-3195211

C

T

intronic

De novo

-

Yuen2017 G

PRDM16

1-0700-005A

chr1:
3215752-3215752

A

C

intronic

De novo

-

Trost2022 G

PRDM16

1-0700-005A

chr1:
3215731-3215731

G

A

intronic

De novo

-

Trost2022 G

PRDM16

1-0566-003

chr1:
3129218-3129218

G

C

intronic

De novo

-

Trost2022 G

PRDM16

2-0129-005

chr1:
3211196-3211196

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

1-0490-003

chr1:
3129213-3129213

G

C

intronic

De novo

-

Trost2022 G

PRDM16

REACH000089

chr1:
3188161-3188161

G

T

intronic

De novo

-

Trost2022 G

PRDM16

2-1458-003

chr1:
3177355-3177356

CA

TGGTGGTGATG

intronic

De novo

-

Trost2022 G

PRDM16

MSSNG00421-003

chr1:
3284973-3284973

G

A

intronic

De novo

-

Trost2022 G

PRDM16

3-0102-000

chr1:
3272325-3272325

G

C

intronic

De novo

-

Trost2022 G

PRDM16

AU1635302

chr1:
3289878-3289878

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

MSSNG00109-003

chr1:
3300367-3300367

C

T

intronic

De novo

-

Trost2022 G

PRDM16

MT_155.3

chr1:
3299753-3299753

C

T

intronic

De novo

-

Trost2022 G

PRDM16

1-0018-004

chr1:
3238000-3238002

ATG

A

intronic

De novo

-

Trost2022 G

PRDM16

3-0278-000

chr1:
3231327-3231327

G

A

intronic

De novo

-

Trost2022 G

PRDM16

5-0058-003

chr1:
3255862-3255862

G

A

intronic

De novo

-

Trost2022 G

PRDM16

MSSNG00396-003

chr1:
3239258-3239258

T

C

intronic

De novo

-

Trost2022 G

PRDM16

36831

chr1:
3331090-3331090

G

C

intronic

De novo

-

Trost2022 G

PRDM16

7-0068-003

chr1:
3065473-3065473

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

AU4314302

chr1:
3078893-3078893

G

A

intronic

De novo

-

Yuen2017 G

PRDM16

2-0298-003

chr1:
3326467-3326468

GT

TG

intronic

De novo

-

Trost2022 G

PRDM16

2-1410-003

chr1:
3338203-3338203

G

A

intronic

De novo

-

Trost2022 G

PRDM16

SP0073044

chr1:
3335221-3335221

T

A

intronic

De novo

-

Trost2022 G

PRDM16

4-0073-003

chr1:
3303785-3303785

C

T

intronic

De novo

-

Trost2022 G

PRDM16

AU4343302

chr1:
3194128-3194128

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

1-1136-003

chr1:
3302347-3302347

A

C

intronic

De novo

-

Trost2022 G

PRDM16

REACH000258

chr1:
3318041-3318041

A

G

intronic

De novo

-

Trost2022 G

PRDM16

AU2756306

chr1:
3128392-3128392

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

REACH000555

chr1:
3308365-3308365

C

T

intronic

De novo

-

Trost2022 G

PRDM16

2-0264-004

chr1:
3097841-3097841

C

T

intronic

De novo

-

Yuen2017 G

PRDM16

6244

chr1:
3335291-3335291

T

G

exonic

De novo

synonymous SNV

NM_022114
NM_199454

c.T2922G
c.T2922G

p.T974T
p.T974T

-

8.378E-6

Fu2022 E

PRDM16

AU4496301

chr1:
3097768-3097768

A

G

intronic

De novo

-

Yuen2017 G

PRDM16

1-0206-003

chr1:
3241103-3241103

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

SP0007731

chr1:
3322271-3322271

G

A

intronic

De novo

-

Fu2022 E

PRDM16

MSSNG00415-003

chr1:
3349147-3349147

G

C

intronic

De novo

-

Trost2022 G

PRDM16

2-1409-003

chr1:
3131989-3131991

ATT

AT

intronic

De novo

-

Yuen2017 G

PRDM16

1-1115-003

chr1:
3339997-3339997

G

A

intronic

De novo

-

Trost2022 G

PRDM16

AU076509

chr1:
3175363-3175363

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

09C81503

chr1:
3342340-3342340

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PRDM16

11954

chr1:
3160655-3160659

TACTG

T

exonic

De novo

frameshift deletion

NM_022114
NM_199454

c.393_396del
c.393_396del

p.I131fs
p.I131fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PRDM16

2-0081-003

chr1:
3063920-3063920

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

2-1561-003

chr1:
3265179-3265179

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

5-0133-003

chr1:
3331426-3331426

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

AU0780301

chr1:
3109856-3109856

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRDM16

AU2139301

chr1:
3213048-3213048

G

A

intronic

De novo

-

Yuen2017 G

PRDM16

AU4072303

chr1:
3179812-3179812

C

T

intronic

De novo

-

Trost2022 G
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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