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Results for "IL33"

Variant Events: 12

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
IL33     1-0265-004chr9:
6255622-6255622
GAintronicDe novo--Yuen2017 G
IL33     iHART2450chr9:
6250600-6250600
GTsplicingMaternalsplicing15.123.0E-4Ruzzo2019 G
IL33     AU3636302chr9:
6252617-6252617
CAintronicDe novo--Yuen2017 G
IL33     1-0265-003chr9:
6255622-6255622
GAintronicDe novo--Yuen2017 G
IL33     AU4015303chr9:
6264418-6264418
CTintergenicDe novo--Yuen2017 G
IL33     14228.p1chr9:
6251242-6251242
CAexonicDe novononsynonymous SNVNM_001199640
NM_001314044
NM_001314045
NM_001314046
NM_001314047
NM_033439
c.C320A
c.C320A
c.C320A
c.C320A
c.C320A
c.C320A
p.A107E
p.A107E
p.A107E
p.A107E
p.A107E
p.A107E
12.35-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
IL33     1-0435-003chr9:
6257342-6257342
AGUTR3De novo--Yuen2017 G
IL33     11800.p1chr9:
6256030-6256030
CGexonicDe novosynonymous SNVNM_001199641
NM_001199640
NM_001314048
NM_001314044
NM_001314045
NM_001314046
NM_001314047
NM_033439
c.C297G
c.C549G
c.C549G
c.C675G
c.C675G
c.C657G
c.C657G
c.C675G
p.S99S
p.S183S
p.S183S
p.S225S
p.S225S
p.S219S
p.S219S
p.S225S
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
IL33     2-0142-004chr9:
6250183-6250183
GAintronicDe novo--Yuen2017 G
IL33     AU2215302chr9:
6240787-6240787
TGintronicDe novo--Yuen2017 G
IL33     2-1376-003chr9:
6275727-6275727
ATintergenicDe novo--Yuen2017 G
IL33     SSC03297chr9:
6256030-6256030
CGexonicDe novosynonymous SNVNM_001199641
NM_001199640
NM_001314048
NM_001314044
NM_001314045
NM_001314046
NM_001314047
NM_033439
c.C297G
c.C549G
c.C549G
c.C675G
c.C675G
c.C657G
c.C657G
c.C675G
p.S99S
p.S183S
p.S183S
p.S225S
p.S225S
p.S219S
p.S219S
p.S225S
--Lim2017 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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