Variant Results

or

Results for "RFX3"

Variant Events: 33

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

RFX3

AU3808304

chr9:
3441394-3441394

A

G

intronic

De novo

-

Yuen2017 G

RFX3

AU3881302

chr9:
3276717-3276717

T

C

intronic

De novo

-

Yuen2017 G

RFX3

11341.p1

chr9:
3252475-3252475

G

A

intronic

De novo

-

Turner2016 G

RFX3

2-1267-003

chr9:
3424282-3424282

C

CAGT

intronic

De novo

-

Yuen2017 G

RFX3

7-0174-003

chr9:
3529537-3529537

T

C

intergenic

De novo

-

Yuen2017 G

RFX3

Li2017:16217

chr9:
3248156-3248156

C

T

exonic

Unknown

nonsynonymous SNV

NM_002919
NM_001282116
NM_134428

c.G1844A
c.G1844A
c.G1844A

p.R615H
p.R615H
p.R615H

35.0

-

Li2017 T

RFX3

5-0040-003

chr9:
3387821-3387821

T

C

intronic

De novo

-

Yuen2017 G

RFX3

2-1166-003

chr9:
3364856-3364856

C

T

intronic

De novo

-

Yuen2017 G

RFX3

AU4032305

chr9:
3626209-3626209

G

T

intergenic

De novo

-

Yuen2017 G

RFX3

1-0445-003

chr9:
3495388-3495388

A

G

intronic

De novo

-

Yuen2017 G

RFX3

2-1184-003

chr9:
3622907-3622907

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RFX3

3-0392-000

chr9:
3483190-3483190

C

T

intronic

De novo

-

Yuen2016 G

RFX3

1-0382-003

chr9:
3494191-3494191

C

G

intronic

De novo

-

Yuen2017 G

RFX3

AU2293301

chr9:
3577823-3577823

G

A

intergenic

De novo

-

Yuen2017 G

RFX3

AU053503

chr9:
3591968-3591968

G

A

intergenic

De novo

-

Yuen2017 G

RFX3

AU3638302

chr9:
3499365-3499371

CAAGAAG

CAAG

intronic

De novo

-

Yuen2017 G

RFX3

A0013

chr9:
3248163-3248165

TTA

T

exonic

De novo

frameshift deletion

NM_002919
NM_001282116
NM_134428

c.1835_1836del
c.1835_1836del
c.1835_1836del

p.L612fs
p.L612fs
p.L612fs

-

Li2017 T

RFX3

A5

chr9:
3248163-3248165

TTA

T

exonic

De novo

frameshift deletion

NM_002919
NM_001282116
NM_134428

c.1835_1836del
c.1835_1836del
c.1835_1836del

p.L612fs
p.L612fs
p.L612fs

-

Wu2018 G

RFX3

04C34991

chr9:
3257121-3257121

G

A

exonic

De novo

stopgain

NM_002919
NM_001282116
NM_134428

c.C1684T
c.C1684T
c.C1684T

p.Q562X
p.Q562X
p.Q562X

42.0

-

Satterstrom2020 E

RFX3

10155

chr9:
3469175-3469175

T

C

intronic

De novo

1.222

-

Satterstrom2020 E

RFX3

2-1246-003

chr9:
3458260-3458260

G

C

intronic

De novo

-

Yuen2017 G

RFX3

AU074403

chr9:
3504216-3504216

T

C

intronic

De novo

-

Yuen2017 G

RFX3

1-0393-003

chr9:
3288230-3288230

T

C

exonic

De novo

nonsynonymous SNV

NM_002919
NM_001282116
NM_001282117
NM_134428

c.A752G
c.A752G
c.A752G
c.A752G

p.Y251C
p.Y251C
p.Y251C
p.Y251C

21.9

-

Yuen2017 G

RFX3

1-0384-003

chr9:
3225444-3225444

T

C

intronic

De novo

-

Yuen2017 G

RFX3

SP0031197

chr9:
3301580-3301580

A

C

exonic

De novo

nonsynonymous SNV

NM_002919
NM_001282116
NM_001282117
NM_134428

c.T515G
c.T515G
c.T515G
c.T515G

p.L172R
p.L172R
p.L172R
p.L172R

16.9

-

Feliciano2019 E

RFX3

1-0206-004

chr9:
3336344-3336344

A

G

intronic

De novo

-

Yuen2017 G

RFX3

2-0270-004

chr9:
3525672-3525684

CACACACGCACGG

C

intronic

De novo

-

Yuen2017 G

RFX3

12306.p1

chr9:
3224995-3224995

A

G

UTR3

De novo

-

8.375E-6

Satterstrom2020 E

RFX3

AU004017

chr9:
3263017-3263017

G

T

exonic

De novo

nonsynonymous SNV

NM_002919
NM_001282116
NM_134428

c.C1523A
c.C1523A
c.C1523A

p.A508E
p.A508E
p.A508E

36.0

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

RFX3

2-1562-003

chr9:
3498304-3498304

A

T

intronic

De novo

-

Yuen2017 G

RFX3

2-1567-004

chr9:
3426124-3426124

G

A

intronic

De novo

-

Yuen2017 G

RFX3

1-0075-003

chr9:
3277618-3277618

G

A

intronic

De novo

-

Yuen2017 G

RFX3

2-1146-003

chr9:
3659134-3659134

G

A

intergenic

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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