Variant Results

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Results for "PPP2R1A"

Variant Events: 11

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

PPP2R1A

AU3801301

chr19:
52746660-52746660

A

C

intergenic

De novo

-

-

Yuen2017 G

PPP2R1A

Marques2022:170

chr19:
52725358-52725358

T

C

exonic

nonsynonymous SNV

NM_014225

c.T1525C

p.S509P

21.0

-

Marques2022 ET

PPP2R1A

1-0354-006

chr19:
52724696-52724696

C

T

intronic

De novo

-

-

Yuen2017 G

PPP2R1A

Marques2022:169

chr19:
52716217-52716217

C

T

exonic

nonsynonymous SNV

NM_014225

c.C661T

p.R221W

27.2

-

Marques2022 ET

PPP2R1A

2-1094-005

chr19:
52752215-52752215

A

T

intergenic

De novo

-

-

Yuen2017 G

PPP2R1A

1-0757-003

chr19:
52723495-52723495

G

C

exonic

De novo

synonymous SNV

NM_014225

c.G1356C

p.V452V

-

-

Yuen2017 G

PPP2R1A

1-0978-003

chr19:
52698455-52698455

C

T

intronic

De novo

-

-

Yuen2017 G

PPP2R1A

200675336_1082034492

chr19:
52716007-52716007

A

G

exonic

De novo

nonsynonymous SNV

NM_014225

c.A572G

p.E191G

17.38

-

Fu2022 E

PPP2R1A

AU2756306

chr19:
52693382-52693382

C

T

exonic

De novo

synonymous SNV

NM_014225

c.C33T

p.Y11Y

-

-

Yuen2017 G

PPP2R1A

458-09-112046

chr19:
52716215-52716215

T

G

exonic

De novo

nonsynonymous SNV

NM_014225

c.T659G

p.V220G

19.87

-

Fu2022 E
Satterstrom2020 E

PPP2R1A

2-1362-003

chr19:
52759208-52759208

G

A

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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