Variant Results

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Results for "PPP1R36"

Variant Events: 16

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

PPP1R36

1-0052-003

chr14:
65087127-65087127

A

C

intergenic

De novo

-

-

Yuen2017 G

PPP1R36

2-1429-004

chr14:
65050822-65050822

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPP1R36

1-0354-006

chr14:
65086824-65086824

C

T

intergenic

De novo

-

-

Yuen2017 G

PPP1R36

2-1302-003

chr14:
65027472-65027472

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPP1R36

mAGRE2748

chr14:
65032338-65032343

TTTCAG

T

splicing

Maternal

splicing

-

Cirnigliaro2023 G

PPP1R36

mAGRE2747

chr14:
65032338-65032343

TTTCAG

T

splicing

Maternal

splicing

-

Cirnigliaro2023 G

PPP1R36

mAGRE2446

chr14:
65019554-65019554

C

T

exonic

Paternal

stopgain

NM_172365

c.C157T

p.Q53X

10.03

Cirnigliaro2023 G

PPP1R36

mAGRE2445

chr14:
65019554-65019554

C

T

exonic

Paternal

stopgain

NM_172365

c.C157T

p.Q53X

10.03

Cirnigliaro2023 G

PPP1R36

iHART2446

chr14:
65019554-65019554

C

T

exonic

Paternal

stopgain

NM_172365

c.C157T

p.Q53X

10.03

Ruzzo2019 G

PPP1R36

iHART2445

chr14:
65019554-65019554

C

T

exonic

Paternal

stopgain

NM_172365

c.C157T

p.Q53X

10.03

Ruzzo2019 G

PPP1R36

iHART2748

chr14:
65032338-65032343

TTTCAG

T

splicing

Maternal

splicing

-

Ruzzo2019 G

PPP1R36

1-0404-003

chr14:
65081057-65081057

G

C

intergenic

De novo

-

-

Yuen2017 G

PPP1R36

iHART2747

chr14:
65032338-65032343

TTTCAG

T

splicing

Maternal

splicing

-

Ruzzo2019 G

PPP1R36

1-0358-003

chr14:
65125584-65125584

G

A

intergenic

De novo

-

-

Yuen2017 G

PPP1R36

AU031203

chr14:
65022565-65022577

CCTCTCTCTCTCT

CCTCTCTCTCTCTCT

intronic

De novo

-

-

Yuen2017 G

PPP1R36

5-0066-003

chr14:
65034239-65034239

G

GT

intronic

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
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