Variant Results

or

or

Results for "PPARGC1B"

Variant Events: 15

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

1-0547-003

chr5:
149120723-149120723

G

A

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

2-1089-004

chr5:
149153316-149153316

T

TGAG

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

3-0216-000

chr5:
149110946-149110946

T

C

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

AU4032305

chr5:
149131272-149131272

G

T

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

AU3506302

chr5:
149203628-149203628

C

T

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

2076-24438

chr5:
149212338-149212339

AC

A

exonic

frameshift deletion

NM_001172698
NM_001172699
NM_133263

c.586delC
c.511delC
c.703delC

p.P196fs
p.P171fs
p.P235fs

-

-

Callaghan2019 G

PPARGC1B

AU3517302

chr5:
149202120-149202120

G

C

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

12240.p1

chr5:
149200044-149200044

G

A

exonic

De novo, Mosaic Pat.

nonsynonymous SNV

NM_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

1-0417-003

chr5:
149161738-149161738

T

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PPARGC1B

09C81507

chr5:
149200199-149200199

A

C

intronic

De novo

-

Kosmicki2017 E

PPARGC1B

1-0701-003

chr5:
149178327-149178327

C

T

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

12240_p1

chr5:
149200044-149200044

G

A

exonic

De novo

nonsynonymous SNV

NM_001172698
NM_001172699
NM_133263

c.G127A
c.G52A
c.G127A

p.D43N
p.D18N
p.D43N

32.0

-

Fu2022 E

PPARGC1B

1-0412-003

chr5:
149171427-149171427

A

G

intronic

De novo

-

-

Yuen2017 G

PPARGC1B

SP0107293

chr5:
149214898-149214898

A

C

exonic

De novo

nonsynonymous SNV

NM_001172698
NM_001172699
NM_133263

c.A1660C
c.A1585C
c.A1777C

p.T554P
p.T529P
p.T593P

15.6

-

Fu2022 E

PPARGC1B

1-0059-003

chr5:
149206589-149206589

G

A

intronic

De novo

-

-

Yuen2017 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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