Variant Results

or

or

Results for "OGDH"

Variant Events: 25

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

OGDH

1-0169-004

chr7:
44748310-44748311

GC

G

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

OGDH

1-1044-003

chr7:
44666885-44666885

C

T

intronic

De novo

-

-

Trost2022 G

OGDH

2-0244-003

chr7:
44661552-44661552

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OGDH

MSSNG00466-003

chr7:
44669586-44669586

T

G

intronic

De novo

-

-

Trost2022 G

OGDH

13926.p1

chr7:
44737885-44737885

G

C

intronic

De novo

-

Satterstrom2020 E

OGDH

MSSNG00020-003

chr7:
44656218-44656218

A

G

intronic

De novo

-

-

Trost2022 G

OGDH

AU3849302

chr7:
44656263-44656263

T

C

intronic

De novo

-

-

Yuen2017 G

OGDH

SP0169382

chr7:
44737754-44737754

A

C

intronic

De novo

-

-

Trost2022 G

OGDH

6248

chr7:
44737885-44737885

G

C

intronic

De novo

-

Trost2022 G

OGDH

2-1764-003

chr7:
44728400-44728400

T

C

intronic

De novo

-

-

Trost2022 G

OGDH

1-0731-004

chr7:
44729820-44729820

C

T

intronic

De novo

-

-

Trost2022 G

OGDH

MSSNG00408-003

chr7:
44712658-44712658

G

T

intronic

De novo

-

-

Trost2022 G

OGDH

1-0057-003

chr7:
44725484-44725484

A

G

intronic

De novo

-

-

Trost2022 G

OGDH

MSSNG00146-003

chr7:
44687006-44687006

G

A

intronic

De novo

-

-

Trost2022 G

OGDH

MSSNG00366-003

chr7:
44693493-44693493

G

T

intronic

De novo

-

-

Trost2022 G

OGDH

SP0088961

chr7:
44687206-44687206

C

T

intronic

De novo

-

Fu2022 E

OGDH

7-0215-003

chr7:
44784133-44784133

T

C

intergenic

De novo

-

-

Yuen2017 G

OGDH

SP0097423

chr7:
44736181-44736181

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

OGDH

SP0116796

chr7:
44714191-44714191

C

T

intronic

De novo

-

-

Fu2022 E

OGDH

09C99309

chr7:
44734101-44734101

A

G

exonic

De novo

nonsynonymous SNV

NM_001165036
NM_002541

c.A1582G
c.A1594G

p.K528E
p.K532E

15.23

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

OGDH

2-1444-003

chr7:
44729219-44729219

A

G

intronic

De novo

-

-

Yuen2017 G

OGDH

1-0024-003

chr7:
44761223-44761223

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

OGDH

AU4250301

chr7:
44765863-44765863

T

A

intergenic

De novo

-

-

Yuen2017 G

OGDH

AU4250301

chr7:
44765844-44765844

C

G

intergenic

De novo

-

-

Yuen2017 G

OGDH

13942.p1

chr7:
44778304-44778304

G

T

intergenic

De novo

-

-

Turner2016 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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