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Results for "PPARGC1B"

Variant Events: 13

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
PPARGC1B     1-0547-003chr5:
149120723-149120723
GAintronicDe novo--Yuen2017 G
PPARGC1B     2-1089-004chr5:
149153316-149153316
TTGAGintronicDe novo--Yuen2017 G
PPARGC1B     3-0216-000chr5:
149110946-149110946
TCintronicDe novo--Yuen2017 G
PPARGC1B     AU4032305chr5:
149131272-149131272
GTintronicDe novo--Yuen2017 G
PPARGC1B     AU3506302chr5:
149203628-149203628
CTintronicDe novo--Yuen2017 G
PPARGC1B     2076-24438chr5:
149212338-149212339
ACAexonicframeshift deletionNM_001172698
NM_001172699
NM_133263
c.586delC
c.511delC
c.703delC
p.P196fs
p.P171fs
p.P235fs
--Callaghan2019 G
PPARGC1B     AU3517302chr5:
149202120-149202120
GCintronicDe novo--Yuen2017 G
PPARGC1B     12240.p1chr5:
149200044-149200044
GAexonicMosaic Pat., De novononsynonymous SNVNM_001172698
NM_001172699
NM_133263
c.G127A
c.G52A
c.G127A
p.D43N
p.D18N
p.D43N
32.0-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PPARGC1B     1-0417-003chr5:
149161738-149161738
TGintronicDe novo--Yuen2016 G
Yuen2017 G
PPARGC1B     09C81507chr5:
149200199-149200199
ACintronicDe novo-0.0055Kosmicki2017 E
PPARGC1B     1-0701-003chr5:
149178327-149178327
CTintronicDe novo--Yuen2017 G
PPARGC1B     1-0412-003chr5:
149171427-149171427
AGintronicDe novo--Yuen2017 G
PPARGC1B     1-0059-003chr5:
149206589-149206589
GAintronicDe novo--Yuen2017 G
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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