Variant Results

or

Results for "PPP4R3B"

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

PPP4R3B

1-0674-003

chr2:
55854573-55854573

T

C

intergenic

De novo

-

Yuen2017 G

PPP4R3B

AU4145303

chr2:
55781295-55781295

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP4R3B

Chen2017:58

chr2:
55825640-55825640

G

C

exonic

De novo

nonsynonymous SNV

NM_001122964
NM_001282850
NM_020463

c.C833G
c.C833G
c.C833G

p.P278R
p.P278R
p.P278R

19.65

-

Chen2017 E

PPP4R3B

1-0292-005

chr2:
55797578-55797578

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP4R3B

10C106627

chr2:
55808728-55808728

G

C

exonic

De novo

nonsynonymous SNV

NM_001122964
NM_001282850
NM_020463

c.C1340G
c.C1340G
c.C1340G

p.P447R
p.P447R
p.P447R

28.1

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PPP4R3B

mAGRE4584

chr2:
55805386-55805386

G

A

exonic

Maternal

stopgain

NM_001122964

c.C1561T

p.Q521X

38.0

-

Cirnigliaro2023 G

PPP4R3B

mAGRE5188

chr2:
55792055-55792059

TTGTC

T

exonic

Maternal

frameshift deletion

NM_020463
NM_001282850
NM_001122964

c.1799_1802del
c.1958_1961del
c.2054_2057del

p.R600fs
p.R653fs
p.R685fs

-

1.67E-5

Cirnigliaro2023 G

PPP4R3B

DEASD_2055_001

chr2:
55777133-55777133

C

G

exonic

De novo

nonsynonymous SNV

NM_020463
NM_001282850
NM_001122964

c.G2209C
c.G2368C
c.G2464C

p.V737L
p.V790L
p.V822L

11.21

-

Fu2022 E

PPP4R3B

mAGRE5187

chr2:
55792055-55792059

TTGTC

T

exonic

Maternal

frameshift deletion

NM_020463
NM_001282850
NM_001122964

c.1799_1802del
c.1958_1961del
c.2054_2057del

p.R600fs
p.R653fs
p.R685fs

-

1.67E-5

Cirnigliaro2023 G

PPP4R3B

200675489_1082035027

chr2:
55825640-55825640

G

C

exonic

De novo

nonsynonymous SNV

NM_001122964
NM_001282850
NM_020463

c.C833G
c.C833G
c.C833G

p.P278R
p.P278R
p.P278R

19.65

-

Fu2022 E

PPP4R3B

AU024104

chr2:
55838057-55838057

G

A

intronic

De novo

-

Yuen2017 G

PPP4R3B

AU3787302

chr2:
55808782-55808795

GGATCAGTATCACA

G

exonic

Maternal

frameshift deletion

NM_001122964
NM_001282850
NM_020463

c.1273_1285del
c.1273_1285del
c.1273_1285del

p.C425fs
p.C425fs
p.C425fs

-

Cirnigliaro2023 G

PPP4R3B

SP0019673

chr2:
55816036-55816036

A

G

exonic

synonymous SNV

NM_001122964
NM_001282850
NM_020463

c.T978C
c.T978C
c.T978C

p.D326D
p.D326D
p.D326D

-

Zhou2022 GE

PPP4R3B

1-0775-003

chr2:
55844308-55844308

C

T

exonic

nonsynonymous SNV

NM_001122964
NM_001282850
NM_020463

c.G114A
c.G114A
c.G114A

p.M38I
p.M38I
p.M38I

17.25

-

Zhou2022 GE

PPP4R3B

3-0497-001

chr2:
55833392-55833396

AAAGG

A

intronic

De novo

-

Trost2022 G

PPP4R3B

REACH000653

chr2:
55833457-55833457

G

T

intronic

De novo

-

Trost2022 G

PPP4R3B

7-0369-003

chr2:
55820914-55820914

T

C

intronic

De novo

-

Trost2022 G

PPP4R3B

1-1047-003

chr2:
55829744-55829744

T

G

intronic

De novo

-

Trost2022 G

PPP4R3B

2-1592-003

chr2:
55814592-55814592

C

T

intronic

De novo

-

Trost2022 G

PPP4R3B

AU2288301

chr2:
55818130-55818130

T

C

intronic

De novo

-

Trost2022 G

PPP4R3B

7-0048-003

chr2:
55781027-55781027

T

C

intronic

De novo

-

Trost2022 G

PPP4R3B

7-0469-003

chr2:
55801478-55801478

A

G

intronic

De novo

-

Trost2022 G

PPP4R3B

200675489@1082035027

chr2:
55825640-55825640

G

C

exonic

De novo

nonsynonymous SNV

NM_001122964
NM_001282850
NM_020463

c.C833G
c.C833G
c.C833G

p.P278R
p.P278R
p.P278R

19.65

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PPP4R3B

SP0060927

chr2:
55805468-55805468

T

A

exonic

De novo

nonsynonymous SNV

NM_001122964

c.A1479T

p.L493F

3.926

-

Fu2022 E
Zhou2022 GE

PPP4R3B

11610.p1

chr2:
55826186-55826186

C

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PPP4R3B

7-0335-003

chr2:
55842499-55842499

T

C

intronic

De novo

-

Trost2022 G

PPP4R3B

3-0034-000

chr2:
55845238-55845238

G

GA

upstream

De novo

-

Trost2022 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