Variant Results

or

or

Results for "PPARG"

Variant Events: 17

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

PPARG

MSSNG00048-003

chr3:
12476301-12476301

A

G

downstream

De novo

-

-

Trost2022 G

PPARG

2-1784-003

chr3:
12435865-12435865

C

T

intronic

De novo

-

-

Trost2022 G

PPARG

1-0188-003

chr3:
12444481-12444492

AGTATAAATACT

A

intronic

De novo

-

-

Trost2022 G

PPARG

AU2756306

chr3:
12419840-12419840

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPARG

1-0183-004

chr3:
12416418-12416418

A

G

intronic

De novo

-

-

Trost2022 G

PPARG

MSSNG00062-003

chr3:
12433063-12433063

T

C

intronic

De novo

-

-

Trost2022 G

PPARG

2-0144-004

chr3:
12500828-12500828

G

A

intergenic

De novo

-

-

Yuen2017 G

PPARG

200675300@1082034284

chr3:
12393199-12393199

T

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

PPARG

2-1567-003

chr3:
12344429-12344429

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPARG

Wang2023:146

chr3:
12422821-12422821

G

A

exonic

De novo

nonsynonymous SNV

NM_005037
NM_015869
NM_138711
NM_138712

c.G227A
c.G311A
c.G227A
c.G227A

p.S76N
p.S104N
p.S76N
p.S76N

10.58

-

Wang2023 E

PPARG

1-0498-003

chr3:
12516056-12516056

A

G

intergenic

De novo

-

-

Yuen2017 G

PPARG

2-1114-003

chr3:
12340846-12340846

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPARG

A17

chr3:
12413187-12413187

G

A

intronic

De novo

-

-

Wu2018 G

PPARG

1-0141-003

chr3:
12347816-12347816

C

A

intronic

De novo

-

-

Trost2022 G

PPARG

MSSNG00102-003

chr3:
12349944-12349944

G

A

intronic

De novo

-

-

Trost2022 G

PPARG

G01-GEA-110-HI

chr3:
12434199-12434199

A

G

exonic

De novo

synonymous SNV

NM_005037
NM_015869
NM_138711
NM_138712

c.A483G
c.A567G
c.A483G
c.A483G

p.K161K
p.K189K
p.K161K
p.K161K

-

-

Lim2017 E

PPARG

Wang2023:235

chr3:
12458450-12458450

C

T

exonic

De novo

nonsynonymous SNV

NM_005037
NM_015869
NM_138711
NM_138712

c.C983T
c.C1067T
c.C983T
c.C983T

p.T328I
p.T356I
p.T328I
p.T328I

13.18

-

Wang2023 E

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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