Variant Results

or

or

Results for "PPP3CA"

Variant Events: 22

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

PPP3CA

3-0080-000

chr4:
102153832-102153832

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PPP3CA

1-0566-003

chr4:
101946066-101946066

G

A

UTR3

De novo

-

-

Yuen2017 G

PPP3CA

5-0129-003

chr4:
102141828-102141828

C

T

intronic

De novo

-

-

Yuen2017 G

PPP3CA

1-0488-003

chr4:
102132873-102132873

G

C

intronic

De novo

-

-

Yuen2017 G

PPP3CA

AU3703302

chr4:
101974040-101974040

A

G

intronic

De novo

-

-

Yuen2017 G

PPP3CA

AU3847302

chr4:
102148486-102148486

G

A

intronic

De novo

-

-

Yuen2017 G

PPP3CA

Mahjani2021:58

chr4:
101947132-101947132

G

A

exonic

nonsynonymous SNV

NM_001130692
NM_001130691
NM_000944

c.C1300T
c.C1426T
c.C1456T

p.R434C
p.R476C
p.R486C

20.3

-

Mahjani2021 E

PPP3CA

1-0273-004

chr4:
102147110-102147110

A

G

intronic

De novo

-

-

Yuen2017 G

PPP3CA

1-0290-003

chr4:
101988301-101988301

A

G

intronic

De novo

-

-

Yuen2017 G

PPP3CA

2-1265-003

chr4:
102152170-102152170

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PPP3CA

2-1466-003

chr4:
102042953-102042953

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PPP3CA

2-0202-004

chr4:
102164779-102164779

G

C

intronic

De novo

-

-

Yuen2017 G

PPP3CA

2-1529-003

chr4:
102268406-102268406

G

A

UTR5

De novo

-

-

Yuen2017 G

PPP3CA

DEASD_2119_001

chr4:
102117260-102117260

A

T

exonic

De novo

synonymous SNV

NM_000944
NM_001130691
NM_001130692

c.T72A
c.T72A
c.T72A

p.P24P
p.P24P
p.P24P

-

-

Fu2022 E

PPP3CA

SP0070713

chr4:
102014953-102014953

C

G

exonic

De novo

nonsynonymous SNV

NM_000944
NM_001130691
NM_001130692

c.G762C
c.G762C
c.G762C

p.R254S
p.R254S
p.R254S

18.39

-

Antaki2022 GE
Fu2022 E

PPP3CA

2-0285-004

chr4:
102231987-102231987

T

C

intronic

De novo

-

-

Yuen2017 G

PPP3CA

AU017703

chr4:
102088931-102088931

G

T

intronic

De novo

-

-

Yuen2017 G

PPP3CA

7-0253-004

chr4:
102241322-102241338

TCACACACACACACACA

TCACACACACACACA

intronic

De novo

-

-

Yuen2017 G

PPP3CA

05HI3588A

chr4:
101947055-101947055

G

C

exonic

De novo

nonsynonymous SNV

NM_001130692
NM_001130691
NM_000944

c.C1377G
c.C1503G
c.C1533G

p.D459E
p.D501E
p.D511E

13.75

-

Fu2022 E
Satterstrom2020 E

PPP3CA

AU2139305

chr4:
101950844-101950848

CTATT

CTATTATT

intronic

De novo

-

-

Yuen2017 G

PPP3CA

SP0008487

chr4:
102030217-102030217

C

T

exonic

De novo

nonsynonymous SNV

NM_000944
NM_001130691
NM_001130692

c.G278A
c.G278A
c.G278A

p.G93E
p.G93E
p.G93E

21.6

-

Antaki2022 GE
Fu2022 E

PPP3CA

AU1894304

chr4:
102193503-102193503

C

T

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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