Variant Results

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Results for "PHLPP1"

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

PHLPP1

AU3874301

chr18:
60544904-60544904

T

C

intronic

De novo

-

-

Yuen2017 G

PHLPP1

1-0559-004

chr18:
60739800-60739800

G

A

intergenic

De novo

-

-

Yuen2017 G

PHLPP1

2-1342-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

PHLPP1

151454

chr18:
60383324-60383324

C

T

exonic

De novo

synonymous SNV

NM_194449

c.C408T

p.A136A

-

-

Fu2022 E

PHLPP1

1-0393-003

chr18:
60385380-60385380

G

A

intronic

De novo

-

-

Yuen2017 G

PHLPP1

11194.p1

chr18:
60785750-60785750

A

G

intergenic

De novo

-

-

Turner2016 G

PHLPP1

AU073005

chr18:
60603454-60603454

C

T

intronic

De novo

-

-

Yuen2017 G

PHLPP1

14015.p1

chr18:
60383075-60383075

C

G

exonic

De novo

synonymous SNV

NM_194449

c.C159G

p.P53P

-

-

Turner2016 G

PHLPP1

12529.p1

chr18:
60584709-60584709

T

G

intronic

De novo

-

-

Turner2016 G

PHLPP1

1-0606-003

chr18:
60652297-60652297

A

G

intergenic

De novo

-

-

Yuen2017 G

PHLPP1

7-0024-005

chr18:
60695489-60695489

C

A

intergenic

De novo

-

-

Yuen2017 G

PHLPP1

1-0604-003

chr18:
60597045-60597045

G

A

intronic

De novo

-

-

Yuen2017 G

PHLPP1

5-0128-003

chr18:
60452463-60452469

GTAGATA

GTA

intronic

De novo

-

-

Yuen2017 G

PHLPP1

AU1355301

chr18:
60508132-60508132

T

C

intronic

De novo

-

-

Yuen2017 G

PHLPP1

AU2165301

chr18:
60409982-60409982

C

T

intronic

De novo

-

-

Yuen2017 G

PHLPP1

SP0039062

chr18:
60382985-60383084

TCCGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCGCGGCGGCTCTGGCGGCGGCGGCCGGGGGCGGCCGGAGTCCGGAGCCCGCGCTGACC

T

exonic

De novo

nonframeshift deletion

NM_194449

c.70_168del

p.24_56del

-

-

Fu2022 E

PHLPP1

AU2000302

chr18:
60546096-60546096

G

A

intronic

De novo

-

-

Yuen2017 G

PHLPP1

AU3724301

chr18:
60726120-60726121

GA

G

intergenic

De novo

-

-

Yuen2017 G

PHLPP1

1-0636-003

chr18:
60709457-60709457

A

G

intergenic

De novo

-

-

Yuen2017 G

PHLPP1

1-0564-003

chr18:
60777846-60777861

CTGGTGGTGGTGGTGG

CTGGTGGTGGTGG

intergenic

De novo

-

-

Yuen2017 G

PHLPP1

AU1952305

chr18:
60396884-60396884

G

T

intronic

De novo

-

-

Yuen2017 G

PHLPP1

AU2139303

chr18:
60509725-60509725

G

C

intronic

De novo

-

-

Yuen2017 G

PHLPP1

7-0123-003

chr18:
60492737-60492741

GCTCT

GCT

intronic

De novo

-

-

Yuen2017 G

PHLPP1

74-0075

chr18:
60716621-60716621

T

A

intergenic

De novo

-

-

Michaelson2012 G

PHLPP1

1-0402-004

chr18:
60741682-60741682

G

A

intergenic

De novo

-

-

Yuen2017 G

PHLPP1

1-0153-004

chr18:
60403062-60403062

G

C

intronic

De novo

-

-

Yuen2017 G

PHLPP1

A30

chr18:
60409467-60409467

T

C

intronic

De novo

-

-

Wu2018 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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