Variant Results

or

Results for "PDHA2"

Variant Events: 87

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

PDHA2

AU056005

chr4:
97428572-97428572

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1411-003

chr4:
98182577-98182580

CTGT

CT

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1269-003

chr4:
97953124-97953124

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PDHA2

7-0143-003

chr4:
97969635-97969635

C

A

intergenic

De novo

-

Yuen2017 G

PDHA2

AU4188302

chr4:
97314768-97314768

G

C

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0914-003

chr4:
97729569-97729569

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

AU047704

chr4:
97571748-97571748

C

A

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0551-004

chr4:
98146457-98146457

G

T

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0289-004

chr4:
97142263-97142263

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

AU3702306

chr4:
97500700-97500700

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1228-003

chr4:
97059950-97059950

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PDHA2

AU3702306

chr4:
97936311-97936311

A

C

intergenic

De novo

-

Yuen2017 G

PDHA2

7-0078-003

chr4:
97913996-97913996

A

C

intergenic

De novo

-

Yuen2017 G

PDHA2

AU2019302

chr4:
97691377-97691377

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

AU3875301

chr4:
97635378-97635378

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1365-003

chr4:
97298252-97298254

CTG

C

intergenic

De novo

-

Yuen2016 G

PDHA2

2-0306-004

chr4:
98224302-98224302

T

A

intergenic

De novo

-

Yuen2017 G

PDHA2

AU4473301

chr4:
98213228-98213228

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0263-003

chr4:
97482773-97482773

T

G

intergenic

De novo

-

Yuen2016 G

PDHA2

13946.p1

chr4:
97064060-97064060

T

C

intergenic

De novo

-

Turner2016 G

PDHA2

12680.p1

chr4:
97613851-97613851

A

C

intergenic

De novo

-

Turner2016 G

PDHA2

5-0014-003

chr4:
97261587-97261587

C

A

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1366-003

chr4:
97910950-97910950

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

AU2863303

chr4:
97001585-97001585

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-0182-003

chr4:
97977123-97977123

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1417-003

chr4:
96845401-96845401

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0304-003

chr4:
97140391-97140406

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1288-003

chr4:
98236464-98236464

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

AU3912301

chr4:
97402386-97402386

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

3-0140-000

chr4:
97549350-97549350

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0248-003

chr4:
97517526-97517526

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1089-003

chr4:
97446489-97446489

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

2-0306-003

chr4:
98224302-98224302

T

A

intergenic

De novo

-

Yuen2016 G

PDHA2

1-0233-004

chr4:
97231653-97231653

T

TTCGTCG

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0323-003

chr4:
97861614-97861614

G

C

intergenic

De novo

-

Yuen2017 G

PDHA2

A7

chr4:
98281373-98281373

T

C

intergenic

De novo

-

Wu2018 G

PDHA2

2-1378-003

chr4:
98170262-98170262

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1549-003

chr4:
97222670-97222670

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

5-0088-003

chr4:
98283040-98283040

G

T

intergenic

De novo

-

Yuen2017 G

PDHA2

AU3911302

chr4:
97484861-97484861

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

AU2089302

chr4:
97582317-97582317

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

3-0080-000

chr4:
97401500-97401500

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PDHA2

AU4468301

chr4:
97762783-97762783

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

3-0391-000

chr4:
97894102-97894102

C

A

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1629-003

chr4:
98252857-98252857

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-0310-003

chr4:
98210610-98210610

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

7-0251-003

chr4:
97655565-97655580

TTCTCTCTCTCTCTCT

TTCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0186-004

chr4:
98228455-98228455

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1359-004

chr4:
98218568-98218568

T

G

intergenic

De novo

-

Yuen2017 G

PDHA2

AU3371305

chr4:
97430577-97430577

C

G

intergenic

De novo

-

Yuen2017 G

PDHA2

AU1742302

chr4:
96899610-96899610

G

C

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0868-003

chr4:
97433635-97433635

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

AU072505

chr4:
97148696-97148696

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1222-003

chr4:
97742538-97742538

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

AU1725306

chr4:
97403490-97403490

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

A15

chr4:
98256049-98256049

A

G

intergenic

De novo

-

Wu2018 G

PDHA2

AU0780302

chr4:
97651241-97651241

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0225-003

chr4:
98128182-98128182

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0699-003

chr4:
97690190-97690190

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0699-003

chr4:
97065080-97065080

A

C

intergenic

De novo

-

Yuen2017 G

PDHA2

AU030103

chr4:
96954843-96954843

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0473-003

chr4:
97231653-97231653

T

TTCGTCG

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0344-003

chr4:
97894350-97894350

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

2-0210-004

chr4:
97908103-97908103

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1605-004

chr4:
98080414-98080414

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

AU3900301

chr4:
96942453-96942453

C

G

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0436-003

chr4:
98228778-98228778

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

iHART1713

chr4:
96761533-96761533

C

T

exonic

Maternal

stopgain

NM_005390

c.C232T

p.Q78X

36.0

2.0E-4

Ruzzo2019 G

PDHA2

iHART1710

chr4:
96761533-96761533

C

T

exonic

Maternal

stopgain

NM_005390

c.C232T

p.Q78X

36.0

2.0E-4

Ruzzo2019 G

PDHA2

2-1169-003

chr4:
97830427-97830427

A

AT

intergenic

De novo

-

Yuen2017 G

PDHA2

3-0065-000

chr4:
97895377-97895386

TAAGAAGAAG

TAAGAAG

intergenic

De novo

-

Yuen2017 G

PDHA2

AU4054301

chr4:
96853531-96853531

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

AU3865301

chr4:
97357125-97357125

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

3-0442-000

chr4:
98084223-98084223

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PDHA2

1-1000-003

chr4:
97247816-97247835

ATCTCTCTCTCTCTCTCTCT

ATCTCTCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0998-003

chr4:
98172492-98172492

A

C

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1222-003

chr4:
96793916-96793916

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PDHA2

1-0019-004

chr4:
97527844-97527844

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

AU4211304

chr4:
97120465-97120465

C

T

intergenic

De novo

-

Yuen2017 G

PDHA2

AU4306302

chr4:
98028193-98028193

A

C

intergenic

De novo

-

Yuen2017 G

PDHA2

7-0008-003

chr4:
97277740-97277740

T

C

intergenic

De novo

-

Yuen2017 G

PDHA2

1-0629-003

chr4:
97056044-97056044

A

G

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1275-003

chr4:
97883665-97883665

A

C

intergenic

De novo

-

Yuen2017 G

PDHA2

7-0123-003

chr4:
97370180-97370180

C

G

intergenic

De novo

-

Yuen2017 G

PDHA2

AU4234302

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

PDHA2

2-1251-003

chr4:
98280121-98280121

G

A

intergenic

De novo

-

Yuen2017 G

PDHA2

2-1272-003

chr4:
98129897-98129898

AT

A

intergenic

De novo

-

Yuen2016 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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