Variant Results

or

Results for "PRDM15"

Variant Events: 27

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

PRDM15

1-0338-005

chr21:
43249269-43249269

A

C

intronic

De novo

-

Yuen2017 G

PRDM15

1-0744-003

chr21:
43228305-43228305

G

A

intronic

De novo

-

Yuen2017 G

PRDM15

AU3809302

chr21:
43282375-43282375

T

A

intronic

De novo

-

Yuen2017 G

PRDM15

A30

chr21:
43236102-43236102

G

A

exonic

De novo

nonsynonymous SNV

NM_001040424
NM_001282934
NM_022115

c.C2462T
c.C2522T
c.C3449T

p.A821V
p.A841V
p.A1150V

27.3

-

Wu2018 G

PRDM15

2-1134-003

chr21:
43281468-43281468

A

C

intronic

De novo

-

Yuen2017 G

PRDM15

2-0202-003

chr21:
43249295-43249295

C

G

intronic

De novo

-

Yuen2017 G

PRDM15

2-0088-003

chr21:
43249291-43249291

C

CACACAAAT

intronic

De novo

-

Yuen2017 G

PRDM15

2-1314-003

chr21:
43239362-43239362

T

C

intronic

De novo

-

Yuen2016 G

PRDM15

1-0417-003

chr21:
43273789-43273789

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRDM15

1-0382-004

chr21:
43247744-43247744

G

T

intronic

De novo

-

Yuen2017 G

PRDM15

1-0112-003

chr21:
43249269-43249269

A

C

intronic

De novo

-

Yuen2017 G

PRDM15

1-0546-003

chr21:
43232775-43232775

T

C

intronic

De novo

-

Yuen2017 G

PRDM15

1-0206-004

chr21:
43249285-43249285

A

AC

intronic

De novo

-

Yuen2017 G

PRDM15

2-1366-004

chr21:
43249268-43249268

A

AC

intronic

De novo

-

Yuen2017 G

PRDM15

14348.p1

chr21:
43221713-43221713

T

C

exonic

De novo

nonsynonymous SNV

NM_001040424
NM_001282934
NM_022115

c.A3224G
c.A3284G
c.A4211G

p.N1075S
p.N1095S
p.N1404S

10.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PRDM15

1-0169-003

chr21:
43249292-43249292

A

AAATG

intronic

De novo

-

Yuen2017 G

PRDM15

13885.p1

chr21:
43236202-43236202

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

PRDM15

1-0559-003

chr21:
43249269-43249269

A

C

intronic

De novo

-

Yuen2017 G

PRDM15

Li2017:23082

chr21:
43254644-43254644

G

GC

exonic

Unknown

frameshift insertion

NM_001282934

c.1506dupG

p.P503fs

-

Li2017 T

PRDM15

SSC11437

chr21:
43221713-43221713

T

C

exonic

De novo

nonsynonymous SNV

NM_001040424
NM_001282934
NM_022115

c.A3224G
c.A3284G
c.A4211G

p.N1075S
p.N1095S
p.N1404S

10.7

-

Lim2017 E

PRDM15

2-0202-004

chr21:
43249317-43249317

A

ACACT

intronic

De novo

-

Yuen2017 G

PRDM15

14067.p1

chr21:
43246423-43246423

A

G

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

PRDM15

1-0150-003

chr21:
43249268-43249268

A

AC

intronic

De novo

-

Yuen2017 G

PRDM15

Li2017:27806

chr21:
43287454-43287454

G

A

exonic

Unknown

stopgain

NM_022115

c.C574T

p.Q192X

15.0

-

Li2017 T

PRDM15

2-1094-005

chr21:
43249295-43249295

C

G

intronic

De novo

-

Yuen2017 G

PRDM15

1048_16mr

chr21:
43258149-43258149

C

T

exonic

De novo

nonsynonymous SNV

NM_001040424
NM_001282934
NM_022115

c.G1006A
c.G1006A
c.G1993A

p.E336K
p.E336K
p.E665K

27.9

8.237E-6

Satterstrom2020 E

PRDM15

5-0088-003

chr21:
43292378-43292378

G

A

intronic

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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