or
or
Exact

Results for "RFWD2"

Variant Events: 23

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     5-0014-003chr1:
176390567-176390567
GTintergenicDe novo--Yuen2017 G
RFWD2     AU3586303chr1:
176303181-176303181
ACintergenicDe novo--Yuen2017 G
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     2-1362-004chr1:
176292033-176292033
TCintergenicDe novo--Yuen2017 G
RFWD2     1-0265-003chr1:
175979640-175979640
AGintronicDe novo--Yuen2017 G
RFWD2     AU003403chr1:
176277737-176277737
TCintergenicDe novo--Yuen2017 G
RFWD2     1-0357-003chr1:
176300146-176300146
CTintergenicDe novo--Yuen2017 G
RFWD2     2-1720-003chr1:
175973971-175973971
CAintronicDe novo--Yuen2017 G
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
RFWD2     5-0129-003chr1:
176423537-176423537
CTintergenicDe novo--Yuen2017 G
RFWD2     AU3343301chr1:
176353994-176353994
CGintergenicDe novo--Yuen2017 G
RFWD2     2-1120-003chr1:
176076152-176076152
TTGAintronicDe novo--Yuen2017 G
RFWD2     AU4273304chr1:
176104775-176104777
TCCTCCCintronicDe novo--Yuen2017 G
RFWD2     2-1188-003chr1:
176430877-176430877
CAintergenicDe novo--Yuen2017 G
RFWD2     2-1456-003chr1:
176234627-176234627
CTintergenicDe novo--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     1-0336-003chr1:
175987491-175987491
AATGintronicDe novo--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-Satterstrom2020 E
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
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 notesView
More