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Results for "RFWD2"

Variant Events: 44

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
RFWD2     REACH000597chr1:
176069269-176069269
TCintronicDe novo--Trost2022 G
RFWD2     5-0014-003chr1:
176390567-176390567
GTintergenicDe novo--Yuen2017 G
RFWD2     AU2571301chr1:
176057584-176057584
AGintronicDe novo--Trost2022 G
RFWD2     7-0461-003chr1:
176083622-176083622
CGintronicDe novo--Trost2022 G
RFWD2     AU3586303chr1:
176303181-176303181
ACintergenicDe novo--Yuen2017 G
RFWD2     1-0876-003Achr1:
176077712-176077712
AGintronicDe novo--Trost2022 G
RFWD2     1-0568-003chr1:
176006261-176006261
AGintronicDe novo--Trost2022 G
RFWD2     SJD_8.4chr1:
175974344-175974344
TCintronicDe novo--Trost2022 G
RFWD2     2-1811-003chr1:
176013881-176013881
GAintronicDe novo--Trost2022 G
RFWD2     1-0568-003chr1:
176006267-176006267
AGintronicDe novo--Trost2022 G
RFWD2     MSSNG00257-003chr1:
176160736-176160736
TAintronicDe novo--Trost2022 G
RFWD2     2-1362-004chr1:
176292033-176292033
TCintergenicDe novo--Yuen2017 G
RFWD2     1-1159-004chr1:
176106397-176106397
TCintronicDe novo--Trost2022 G
RFWD2     1-1183-003chr1:
176101160-176101160
CTintronicDe novo--Trost2022 G
RFWD2     1-0664-003Achr1:
176132456-176132456
CTintronicDe novo--Trost2022 G
RFWD2     MSSNG00106-003chr1:
176116693-176116693
CTintronicDe novo--Trost2022 G
RFWD2     1-0357-003chr1:
176300146-176300146
CTintergenicDe novo--Yuen2017 G
RFWD2     2-1720-003chr1:
175973971-175973971
CAintronicDe novo--Yuen2017 G
RFWD2     2-1120-003chr1:
176076152-176076152
TTGAintronicDe novo--Trost2022 G
Yuen2017 G
RFWD2     AU4273304 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
RFWD2     13069.p1chr1:
176129426-176129426
ATintronicDe novo--Turner2016 G
RFWD2     2-1486-003chr1:
176081119-176081119
CGintronicDe novo--Yuen2017 G
RFWD2     1-0265-004chr1:
175979640-175979640
AGintronicDe novo--Yuen2017 G
RFWD2     Lim2017:37418chr1:
175958552-175958552
TCexonicDe novononsynonymous SNVNM_001286644
NM_001001740
NM_022457
c.A1073G
c.A1721G
c.A1793G
p.H358R
p.H574R
p.H598R
24.3-Lim2017 E
RFWD2     1-0065-005chr1:
175949426-175949426
AACAGTATATTAATTCATTintronicDe novo--Yuen2017 G
RFWD2     63-343chr1:
176220678-176220678
CGintergenicDe novo--Michaelson2012 G
RFWD2     7-0082-003chr1:
176400995-176401006
AATGCAAGTGTGAintergenicDe novo--Yuen2017 G
RFWD2     1-0265-003chr1:
175979640-175979640
AGintronicDe novo--Trost2022 G
Yuen2017 G
RFWD2     SSC12614chr1:
175958552-175958552
TCexonicnonsynonymous SNVNM_001286644
NM_001001740
NM_022457
c.A1073G
c.A1721G
c.A1793G
p.H358R
p.H574R
p.H598R
24.3-Antaki2022 GE
RFWD2     AU003403chr1:
176277737-176277737
TCintergenicDe novo--Yuen2017 G
RFWD2     37418chr1:
175958552-175958552
TCexonicDe novononsynonymous SNVNM_001286644
NM_001001740
NM_022457
c.A1073G
c.A1721G
c.A1793G
p.H358R
p.H574R
p.H598R
24.3-Fu2022 E
Trost2022 G
RFWD2     SP0121673chr1:
176054913-176054913
TGexonicDe novosynonymous SNVNM_001286644
NM_001001740
NM_022457
c.A420C
c.A1068C
c.A1140C
p.S140S
p.S356S
p.S380S
14.59-Fu2022 E
RFWD2     14575.p1chr1:
175958552-175958552
TCexonicDe novononsynonymous SNVNM_001286644
NM_001001740
NM_022457
c.A1073G
c.A1721G
c.A1793G
p.H358R
p.H574R
p.H598R
24.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
RFWD2     5-0129-003chr1:
176423537-176423537
CTintergenicDe novo--Yuen2017 G
RFWD2     AU3343301chr1:
176353994-176353994
CGintergenicDe novo--Yuen2017 G
RFWD2     SP0020602chr1:
176054913-176054913
TGexonicDe novosynonymous SNVNM_001286644
NM_001001740
NM_022457
c.A420C
c.A1068C
c.A1140C
p.S140S
p.S356S
p.S380S
14.59-Fu2022 E
RFWD2     2-1188-003chr1:
176430877-176430877
CAintergenicDe novo--Yuen2017 G
RFWD2     2-1456-003chr1:
176234627-176234627
CTintergenicDe novo--Yuen2017 G
RFWD2     3-0198-000chr1:
175951043-175951044
AGAintronicDe novo--Trost2022 G
RFWD2     1-0336-003chr1:
175987491-175987491
AATGintronicDe novo--Trost2022 G
Yuen2017 G
RFWD2     07C65223chr1:
175996717-175996717
CTexonicDe novononsynonymous SNVNM_001286644
NM_001001740
NM_022457
c.G1000A
c.G1648A
c.G1720A
p.G334S
p.G550S
p.G574S
34.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RFWD2     5-1004-003Achr1:
175963589-175963589
CTintronicDe novo--Trost2022 G
RFWD2     2-1359-005chr1:
175958358-175958359
TATintronicDe novo--Trost2022 G
RFWD2     SP0077979chr1:
176175628-176175628
ACintronicDe novo--Fu2022 E
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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