Variant Results

or

Results for "RORA"

Variant Events: 60

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

RORA

1-0305-004

chr15:
61557891-61557891

G

A

intergenic

De novo

-

Yuen2017 G

RORA

1-0652-004

chr15:
61034486-61034494

GATATGTAA

G

intronic

De novo

-

Yuen2017 G

RORA

1-0191-004

chr15:
61064566-61064566

T

A

intronic

De novo

-

Yuen2017 G

RORA

1-0520-003

chr15:
61872643-61872643

A

T

intergenic

De novo

-

Yuen2017 G

RORA

1-0253-005

chr15:
61159253-61159253

C

T

intronic

De novo

-

Yuen2017 G

RORA

1-0226-005

chr15:
61778198-61778198

C

T

intergenic

De novo

-

Yuen2017 G

RORA

AU056804

chr15:
62017512-62017512

T

G

intergenic

De novo

-

Yuen2017 G

RORA

1-0652-003

chr15:
61034486-61034494

GATATGTAA

G

intronic

De novo

-

Yuen2017 G

RORA

3-0465-000

chr15:
60806942-60806945

TCTC

T

exonic

De novo

nonframeshift deletion

NM_134262
NM_002943
NM_134261
NM_134260

c.129_131del
c.369_371del
c.294_296del
c.393_395del

p.43_44del
p.123_124del
p.98_99del
p.131_132del

-

Tammimies2015 E

RORA

1-0104-004

chr15:
61485052-61485052

G

A

intronic

De novo

-

Yuen2017 G

RORA

SP0034905

chr15:
60806821-60806821

G

C

exonic

De novo

nonsynonymous SNV

NM_134262
NM_002943
NM_134261
NM_134260

c.C253G
c.C493G
c.C418G
c.C517G

p.R85G
p.R165G
p.R140G
p.R173G

33.0

-

Antaki2022 GE
Fu2022 E

RORA

2-1184-003

chr15:
62096677-62096677

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RORA

2-1182-003

chr15:
60994590-60994590

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RORA

AU2215302

chr15:
61776398-61776398

C

T

intergenic

De novo

-

Yuen2017 G

RORA

5-0025-004

chr15:
61217123-61217123

C

CA

intronic

De novo

-

Yuen2017 G

RORA

2-1182-003

chr15:
61446056-61446056

G

A

intronic

De novo

-

Yuen2017 G

RORA

1-0998-003

chr15:
61293433-61293433

C

T

intronic

De novo

-

Yuen2017 G

RORA

1-0533-003

chr15:
61834625-61834627

CAG

C

intergenic

De novo

-

Yuen2017 G

RORA

1-0579-003

chr15:
62017934-62017934

C

T

intergenic

De novo

-

Yuen2017 G

RORA

2-0242-005

chr15:
61217123-61217123

C

CA

intronic

De novo

-

Yuen2017 G

RORA

7-0135-003

chr15:
60973412-60973412

C

G

intronic

De novo

-

Yuen2017 G

RORA

2-1327-004

chr15:
61467333-61467333

G

C

intronic

De novo

-

Yuen2017 G

RORA

AU4452302

chr15:
61138304-61138304

T

C

intronic

De novo

-

Yuen2017 G

RORA

2-1277-003

chr15:
61217123-61217123

C

CA

intronic

De novo

-

Yuen2017 G

RORA

AU3964302

chr15:
61995583-61995583

T

C

intergenic

De novo

-

Yuen2017 G

RORA

2-0304-004

chr15:
61088683-61088683

C

A

intronic

De novo

-

Yuen2017 G

RORA

1-0323-004

chr15:
61772684-61772691

GAACCAAC

G

intergenic

De novo

-

Yuen2017 G

RORA

AU4173301

chr15:
61043377-61043377

C

T

intronic

De novo

-

Yuen2017 G

RORA

1-0566-003

chr15:
61835944-61835944

C

T

intergenic

De novo

-

Yuen2017 G

RORA

1-0566-003

chr15:
61692946-61692946

A

C

intergenic

De novo

-

Yuen2017 G

RORA

SP0071851

chr15:
61521281-61521281

C

T

exonic

De novo

nonsynonymous SNV

NM_134261

c.G137A

p.R46H

14.37

-

Fu2022 E

RORA

2-0016-003

chr15:
61032611-61032611

C

T

intronic

De novo

-

Yuen2017 G

RORA

1-0706-003

chr15:
61583472-61583476

CGGGG

CGGG

intergenic

De novo

-

Yuen2017 G

RORA

1-0075-003

chr15:
61179791-61179791

C

T

intronic

De novo

-

Yuen2017 G

RORA

1-0520-003

chr15:
61901243-61901243

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RORA

AU2863303

chr15:
62086810-62086810

A

G

intergenic

De novo

-

Yuen2017 G

RORA

AU076508

chr15:
61727634-61727634

G

A

intergenic

De novo

-

Yuen2017 G

RORA

2-0242-004

chr15:
61042014-61042014

C

T

intronic

De novo

-

Yuen2017 G

RORA

1-0469-003

chr15:
61924102-61924102

C

T

intergenic

De novo

-

Yuen2017 G

RORA

AU003405

chr15:
61827360-61827360

G

A

intergenic

De novo

-

Yuen2017 G

RORA

2-0063-003

chr15:
61171484-61171484

G

A

intronic

De novo

-

Yuen2017 G

RORA

DEASD_0080_001

chr15:
60792113-60792113

C

T

exonic

De novo

nonsynonymous SNV

NM_134262
NM_002943
NM_134261
NM_134260

c.G1220A
c.G1460A
c.G1385A
c.G1484A

p.R407Q
p.R487Q
p.R462Q
p.R495Q

17.59

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RORA

AU2433302

chr15:
61976464-61976464

A

G

intergenic

De novo

-

Yuen2017 G

RORA

1-0323-003

chr15:
61772684-61772691

GAACCAAC

G

intergenic

De novo

-

Yuen2017 G

RORA

13823.p1

chr15:
61993086-61993086

A

C

intergenic

De novo

-

Wilfert2021 G

RORA

1-0186-005

chr15:
61988937-61988937

A

G

intergenic

De novo

-

Yuen2017 G

RORA

5-0061-003

chr15:
61409541-61409541

G

A

intronic

De novo

-

Yuen2017 G

RORA

13171.p1

chr15:
61663999-61663999

G

T

intergenic

De novo

-

Turner2016 G

RORA

2-0143-004

chr15:
61772286-61772286

T

C

intergenic

De novo

-

Yuen2017 G

RORA

AU4012302

chr15:
61588364-61588364

C

T

intergenic

De novo

-

Yuen2017 G

RORA

1-0490-003

chr15:
61871420-61871420

C

A

intergenic

De novo

-

Yuen2017 G

RORA

2-0143-004

chr15:
61771772-61771772

G

A

intergenic

De novo

-

Yuen2017 G

RORA

2-1383-003

chr15:
60967699-60967699

T

C

intronic

De novo

-

Yuen2017 G

RORA

13946.p1

chr15:
61332427-61332427

T

C

intronic

De novo

-

Turner2016 G

RORA

13874.p1

chr15:
61521565-61521565

G

A

upstream

De novo

-

Turner2016 G

RORA

AU4315302

chr15:
61174255-61174255

C

T

intronic

De novo

-

Yuen2017 G

RORA

2-0143-004

chr15:
61785244-61785244

G

A

intergenic

De novo

-

Yuen2017 G

RORA

7-0077-003

chr15:
62127893-62127893

G

A

intergenic

De novo

-

Yuen2017 G

RORA

2-1337-003

chr15:
61418778-61418778

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RORA

AU4237304

chr15:
60950041-60950041

C

T

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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