Variant Results

or

Results for "PPP1R9A"

Variant Events: 42

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

PPP1R9A

1-0260-004

chr7:
94742255-94742255

G

A

intronic

De novo

-

Trost2022 G

PPP1R9A

2-1093-009

chr7:
94779038-94779039

TT

AA

intronic

De novo

-

Trost2022 G

PPP1R9A

1-0278-003A

chr7:
94682499-94682499

T

A

intronic

De novo

-

Trost2022 G

PPP1R9A

2-0028-003

chr7:
94897707-94897707

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PPP1R9A

REACH000762

chr7:
94691392-94691392

T

C

intronic

De novo

-

Trost2022 G

PPP1R9A

AU055603

chr7:
94591827-94591827

T

C

intronic

De novo

-

Trost2022 G

PPP1R9A

SJD_55.3

chr7:
94598664-94598664

T

C

intronic

De novo

-

Trost2022 G

PPP1R9A

13037.p1

chr7:
94539985-94539985

C

T

exonic

Mosaic Pat., De novo

nonsynonymous SNV

NM_001166161
NM_001166162
NM_001166163
NM_001166160
NM_017650

c.C560T
c.C560T
c.C560T
c.C560T
c.C560T

p.S187F
p.S187F
p.S187F
p.S187F
p.S187F

21.0

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PPP1R9A

SJD_61.3

chr7:
94581792-94581792

A

T

intronic

De novo

-

Trost2022 G

PPP1R9A

SP0160977

chr7:
94855421-94855421

T

A

exonic

De novo

nonsynonymous SNV

NM_001166161
NM_001166162
NM_001166163
NM_017650
NM_001166160

c.T2039A
c.T2039A
c.T2039A
c.T2039A
c.T2105A

p.F680Y
p.F680Y
p.F680Y
p.F680Y
p.F702Y

21.4

-

Trost2022 G

PPP1R9A

2-1206-003

chr7:
94612284-94612284

A

G

intronic

De novo

-

Yuen2017 G

PPP1R9A

MSSNG00336-004

chr7:
94861281-94861286

TAAATA

T

intronic

De novo

-

Trost2022 G

PPP1R9A

1-0272-003

chr7:
94837066-94837071

AATAAT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9A

5-5164-003

chr7:
94823215-94823215

A

G

intronic

De novo

-

Trost2022 G

PPP1R9A

SSC06525

chr7:
94539985-94539985

C

T

exonic

De novo

nonsynonymous SNV

NM_001166161
NM_001166162
NM_001166163
NM_001166160
NM_017650

c.C560T
c.C560T
c.C560T
c.C560T
c.C560T

p.S187F
p.S187F
p.S187F
p.S187F
p.S187F

21.0

-

Fu2022 E
Trost2022 G

PPP1R9A

REACH000065

chr7:
94838295-94838295

G

A

intronic

De novo

-

Trost2022 G

PPP1R9A

1-0092-003

chr7:
94816877-94816877

C

CTTG

intronic

De novo

-

Trost2022 G

PPP1R9A

AU2310301

chr7:
94821539-94821539

A

G

intronic

De novo

-

Trost2022 G

PPP1R9A

2-1093-009

chr7:
94779042-94779042

T

A

intronic

De novo

-

Trost2022 G

PPP1R9A

2-1781-003

chr7:
94810966-94810966

G

A

intronic

De novo

-

Trost2022 G

PPP1R9A

A18

chr7:
94714346-94714346

A

G

intronic

De novo

-

Wu2018 G

PPP1R9A

iHART2255

chr7:
94903407-94903407

C

T

exonic

Maternal

stopgain

NM_001166161
NM_001166162
NM_001166160

c.C3103T
c.C3157T
c.C3223T

p.R1035X
p.R1053X
p.R1075X

42.0

6.84E-5

Ruzzo2019 G

PPP1R9A

AU3634301

chr7:
94632856-94632856

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9A

4-0008-003

chr7:
94910018-94910022

ACTAT

A

intronic

De novo

-

Trost2022 G

PPP1R9A

MSSNG00344-003

chr7:
94922680-94922680

C

T

UTR3

De novo

-

Trost2022 G

PPP1R9A

MSSNG00255-004

chr7:
94901560-94901560

A

G

intronic

De novo

-

Trost2022 G

PPP1R9A

4-0023-004

chr7:
94904491-94904491

G

A

intronic

De novo

-

Trost2022 G

PPP1R9A

7-0335-003

chr7:
94868509-94868511

CAT

C

intronic

De novo

-

Trost2022 G

PPP1R9A

5-5177-003

chr7:
94882305-94882305

C

T

intronic

De novo

-

Trost2022 G

PPP1R9A

AU175A

chr7:
94881043-94881043

A

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PPP1R9A

AU3874301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9A

7-0130-003

chr7:
94905378-94905378

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9A

mAGRE4622

chr7:
94903237-94903237

A

AG

exonic

Maternal

frameshift insertion

NM_001166161
NM_001166162
NM_001166160

c.3032dupG
c.3086dupG
c.3152dupG

p.R1011fs
p.R1029fs
p.R1051fs

-

Cirnigliaro2023 G

PPP1R9A

mAGRE4621

chr7:
94903237-94903237

A

AG

exonic

Maternal

frameshift insertion

NM_001166161
NM_001166162
NM_001166160

c.3032dupG
c.3086dupG
c.3152dupG

p.R1011fs
p.R1029fs
p.R1051fs

-

Cirnigliaro2023 G

PPP1R9A

1-0706-003

chr7:
94908170-94908170

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9A

1-0104-004

chr7:
94668098-94668098

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9A

1-1004-003

chr7:
94833905-94833919

AACACACACACACAC

AACACACACACAC

intronic

De novo

-

Yuen2017 G

PPP1R9A

1-0278-003

chr7:
94682499-94682499

T

A

intronic

De novo

-

Yuen2016 G

PPP1R9A

AU4054301

chr7:
94707716-94707716

A

C

intronic

De novo

-

Yuen2017 G

PPP1R9A

AU2433302

chr7:
94885634-94885634

T

A

intronic

De novo

-

Yuen2017 G

PPP1R9A

AU1952305

chr7:
94828844-94828844

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9A

mAGRE2255

chr7:
94903407-94903407

C

T

exonic

Maternal

stopgain

NM_001166161
NM_001166162
NM_001166160

c.C3103T
c.C3157T
c.C3223T

p.R1035X
p.R1053X
p.R1075X

42.0

6.84E-5

Cirnigliaro2023 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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