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Results for "PPARG"

Variant Events: 8

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     200675300@1082034284chr3:
12393199-12393199
TAintronicDe novo--Satterstrom2020 E
PPARG     2-1567-003chr3:
12344429-12344429
CGintronicDe novo--Yuen2017 G
PPARG     1-0498-003chr3:
12516056-12516056
AGintergenicDe novo--Yuen2017 G
PPARG     AU2756306chr3:
12419840-12419840
GAintronicDe novo--Yuen2017 G
PPARG     2-1114-003chr3:
12340846-12340846
CTintronicDe novo--Yuen2017 G
PPARG     A17chr3:
12413187-12413187
GAintronicDe novo--Wu2018 G
PPARG     2-0144-004chr3:
12500828-12500828
GAintergenicDe novo--Yuen2017 G
PPARG     G01-GEA-110-HIchr3:
12434199-12434199
AGexonicDe novosynonymous SNVNM_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
Source Variant Information

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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 notesView
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