Variant Results

or

Results for "RORB"

Variant Events: 32

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

RORB

AU076808

chr9:
77275720-77275720

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RORB

364-05-104982

chr9:
77286707-77286707

C

T

exonic

De novo

stopgain

NM_006914

c.C1114T

p.R372X

37.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RORB

2-1261-004

chr9:
77297930-77297930

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RORB

Mahjani2021:141

chr9:
77280437-77280437

G

A

exonic

nonsynonymous SNV

NM_006914

c.G926A

p.R309H

35.0

-

Mahjani2021 E

RORB

2-1721-003

chr9:
77286749-77286749

G

GA

exonic

De novo

frameshift insertion

NM_006914

c.1157dupA

p.E386fs

-

Trost2022 G
Zhou2022 GE

RORB

1-0534-006

chr9:
77326132-77326132

T

C

intergenic

De novo

-

Yuen2017 G

RORB

SP0033004

chr9:
77300422-77300422

A

T

exonic

De novo

nonsynonymous SNV

NM_006914

c.A1268T

p.H423L

21.7

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

RORB

SP0021652

chr9:
77286714-77286714

G

A

exonic

stopgain

NM_006914

c.G1121A

p.W374X

37.0

-

Antaki2022 GE

RORB

SP0071606

chr9:
77282722-77282722

T

C

exonic

De novo

nonsynonymous SNV

NM_006914

c.T1016C

p.V339A

28.1

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

RORB

SP0015463

chr9:
77257407-77257408

CA

C

exonic

De novo

frameshift deletion

NM_006914

c.314delA

p.Q105fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

RORB

SP0155495

chr9:
77277414-77277414

T

C

exonic

nonsynonymous SNV

NM_006914

c.T784C

p.C262R

22.6

-

Zhou2022 GE

RORB

AU3727303

chr9:
77324788-77324788

C

T

intergenic

De novo

-

Yuen2017 G

RORB

AU4153301

chr9:
77311351-77311351

C

T

intergenic

De novo

-

Yuen2017 G

RORB

SP0321324

chr9:
77286755-77286755

A

T

exonic

nonsynonymous SNV

NM_006914

c.A1162T

p.I388F

19.91

-

Zhou2022 GE

RORB

ASC_CA_63_A

chr9:
77277445-77277445

A

ACG

exonic

De novo

frameshift insertion

NM_006914

c.815_816insCG

p.Y272fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RORB

MT_68.3

chr9:
77210199-77210199

T

A

intronic

De novo

-

Trost2022 G

RORB

5-5123-004

chr9:
77262729-77262729

T

C

intronic

De novo

-

Trost2022 G

RORB

AU3907302

chr9:
77302516-77302516

T

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

RORB

2-0129-004

chr9:
77257148-77257148

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RORB

1-0304-003

chr9:
77296915-77296915

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

RORB

2-0320-003

chr9:
77234426-77234426

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RORB

1-0572-003

chr9:
77206859-77206892

TGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAG

TGAGAGAGAGAGACAGAGAGAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

RORB

14314.p1

chr9:
77245254-77245254

T

G

exonic

De novo

nonsynonymous SNV

NM_006914

c.T64G

p.Y22D

24.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

RORB

SSC11871

chr9:
77245254-77245254

T

G

exonic

De novo

nonsynonymous SNV

NM_006914

c.T64G

p.Y22D

24.6

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

RORB

AU2310301

chr9:
77285228-77285228

G

A

intronic

De novo

-

Trost2022 G

RORB

1-0289-004

chr9:
77286498-77286498

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RORB

1-0446-003

chr9:
77266886-77266886

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RORB

AU4154303

chr9:
77331195-77331195

T

G

intergenic

De novo

-

Yuen2017 G

RORB

AU026604

chr9:
77333365-77333365

C

T

intergenic

De novo

-

Yuen2017 G

RORB

SMHC01846d000

chr9:
77286707-77286707

C

T

exonic

De novo

stopgain

NM_006914

c.C1114T

p.R372X

37.0

-

Yuan2023 E

RORB

2-0057-004

chr9:
77304005-77304005

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

RORB

Mahjani2021:136

chr9:
77277517-77277517

A

G

exonic

nonsynonymous SNV

NM_006914

c.A887G

p.K296R

25.8

-

Mahjani2021 E

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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