Variant Results

or

Results for "IL33"

Variant Events: 17

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

1-0265-004

chr9:
6255622-6255622

G

A

intronic

De novo

-

Yuen2017 G

IL33

iHART2450

chr9:
6250600-6250600

G

T

splicing

Maternal

splicing

15.12

3.0E-4

Ruzzo2019 G

IL33

mAGRE2450

chr9:
6250600-6250600

G

T

splicing

Maternal

splicing

15.12

3.0E-4

Cirnigliaro2023 G

IL33

1-0265-003

chr9:
6255622-6255622

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IL33

14228.p1

chr9:
6251242-6251242

C

A

exonic

De novo

nonsynonymous SNV

NM_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
Trost2022 G
Zhou2022 GE

IL33

1-0435-003

chr9:
6257342-6257342

A

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

IL33

11800.p1

chr9:
6256030-6256030

C

G

exonic

De novo

synonymous SNV

NM_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
Zhou2022 GE

IL33

AU2215302

chr9:
6240787-6240787

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IL33

2-1376-003

chr9:
6275727-6275727

A

T

intergenic

De novo

-

Yuen2017 G

IL33

14228_p1

chr9:
6251242-6251242

C

A

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E

IL33

MSSNG00039-003

chr9:
6239135-6239135

C

T

intronic

De novo

-

Trost2022 G

IL33

AU3636302

chr9:
6252617-6252617

C

A

intronic

De novo

-

Yuen2017 G

IL33

2-1085-004

chr9:
6217851-6217851

C

CTAT

intronic

De novo

-

Trost2022 G

IL33

AU4015303

chr9:
6264418-6264418

C

T

intergenic

De novo

-

Yuen2017 G

IL33

1-1102-003

chr9:
6226642-6226642

A

C

intronic

De novo

-

Trost2022 G

IL33

2-0142-004

chr9:
6250183-6250183

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IL33

SSC03297

chr9:
6256030-6256030

C

G

exonic

De novo

synonymous SNV

NM_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

-

Fu2022 E
Lim2017 E
Trost2022 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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