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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     AU3808304chr9:
3441394-3441394
AGintronicDe novo--Yuen2017 G
RFX3     AU3881302chr9:
3276717-3276717
TCintronicDe novo--Yuen2017 G
RFX3     11341.p1chr9:
3252475-3252475
GAintronicDe novo--Turner2016 G
RFX3     2-1267-003chr9:
3424282-3424282
CCAGTintronicDe novo--Yuen2017 G
RFX3     7-0174-003chr9:
3529537-3529537
TCintergenicDe novo--Yuen2017 G
RFX3     Li2017:16217chr9:
3248156-3248156
CTexonicUnknownnonsynonymous SNVNM_002919
NM_001282116
NM_134428
c.G1844A
c.G1844A
c.G1844A
p.R615H
p.R615H
p.R615H
35.0-Li2017 T
RFX3     5-0040-003chr9:
3387821-3387821
TCintronicDe novo--Yuen2017 G
RFX3     2-1166-003chr9:
3364856-3364856
CTintronicDe novo--Yuen2017 G
RFX3     AU4032305chr9:
3626209-3626209
GTintergenicDe novo--Yuen2017 G
RFX3     1-0445-003chr9:
3495388-3495388
AGintronicDe novo--Yuen2017 G
RFX3     2-1184-003chr9:
3622907-3622907
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
RFX3     3-0392-000chr9:
3483190-3483190
CTintronicDe novo--Yuen2016 G
RFX3     1-0382-003chr9:
3494191-3494191
CGintronicDe novo--Yuen2017 G
RFX3     AU2293301chr9:
3577823-3577823
GAintergenicDe novo--Yuen2017 G
RFX3     AU053503chr9:
3591968-3591968
GAintergenicDe novo--Yuen2017 G
RFX3     AU3638302chr9:
3499365-3499371
CAAGAAGCAAGintronicDe novo--Yuen2017 G
RFX3     A0013chr9:
3248163-3248165
TTATexonicDe novoframeshift deletionNM_002919
NM_001282116
NM_134428
c.1835_1836del
c.1835_1836del
c.1835_1836del
p.L612fs
p.L612fs
p.L612fs
--Li2017 T
RFX3     A5chr9:
3248163-3248165
TTATexonicDe novoframeshift deletionNM_002919
NM_001282116
NM_134428
c.1835_1836del
c.1835_1836del
c.1835_1836del
p.L612fs
p.L612fs
p.L612fs
--Wu2018 G
RFX3     04C34991chr9:
3257121-3257121
GAexonicDe novostopgainNM_002919
NM_001282116
NM_134428
c.C1684T
c.C1684T
c.C1684T
p.Q562X
p.Q562X
p.Q562X
42.0-Satterstrom2020 E
RFX3     10155chr9:
3469175-3469175
TCintronicDe novo1.222-Satterstrom2020 E
RFX3     2-1246-003chr9:
3458260-3458260
GCintronicDe novo--Yuen2017 G
RFX3     AU074403chr9:
3504216-3504216
TCintronicDe novo--Yuen2017 G
RFX3     1-0393-003chr9:
3288230-3288230
TCexonicDe novononsynonymous SNVNM_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     1-0384-003chr9:
3225444-3225444
TCintronicDe novo--Yuen2017 G
RFX3     SP0031197chr9:
3301580-3301580
ACexonicDe novononsynonymous SNVNM_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     1-0206-004chr9:
3336344-3336344
AGintronicDe novo--Yuen2017 G
RFX3     2-0270-004chr9:
3525672-3525684
CACACACGCACGGCintronicDe novo--Yuen2017 G
RFX3     12306.p1chr9:
3224995-3224995
AGUTR3De novo-8.375E-6Satterstrom2020 E
RFX3     AU004017chr9:
3263017-3263017
GTexonicDe novononsynonymous SNVNM_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     2-1562-003chr9:
3498304-3498304
ATintronicDe novo--Yuen2017 G
RFX3     2-1567-004chr9:
3426124-3426124
GAintronicDe novo--Yuen2017 G
RFX3     1-0075-003chr9:
3277618-3277618
GAintronicDe novo--Yuen2017 G
RFX3     2-1146-003chr9:
3659134-3659134
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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