Variant Results

or

or

Results for "IRF2"

Variant Events: 22

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

IRF2

1-0051-004

chr4:
185338605-185338605

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IRF2

AU3638302

chr4:
185440556-185440562

CTTCTTT

CTT

intergenic

De novo

-

-

Yuen2017 G

IRF2

AU011604

chr4:
185381425-185381425

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IRF2

2-1730-003

chr4:
185384029-185384029

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IRF2

2-0012-003

chr4:
185411143-185411143

A

G

intergenic

De novo

-

-

Yuen2017 G

IRF2

2-1356-003

chr4:
185372031-185372031

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

IRF2

SMHC01698s000

chr4:
185339341-185339342

CT

C

exonic

De novo

frameshift deletion

NM_002199

c.390delA

p.E130fs

-

-

Yuan2023 E

IRF2

2-1561-003

chr4:
185354571-185354571

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IRF2

2-1128-003

chr4:
185400507-185400507

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

IRF2

Disecmas_014P

chr4:
185339700-185339700

C

T

exonic

De novo

nonsynonymous SNV

NM_002199

c.G350A

p.R117Q

18.78

Fu2022 E

IRF2

3-0207-000

chr4:
185366591-185366591

T

C

intronic

De novo

-

-

Trost2022 G

IRF2

Chen2017:99

chr4:
185320175-185320175

C

T

exonic

De novo

synonymous SNV

NM_002199

c.G588A

p.P196P

7.598

Chen2017 E

IRF2

MSSNG00094-003

chr4:
185366862-185366862

T

C

intronic

De novo

-

-

Trost2022 G

IRF2

1-1155-003

chr4:
185335565-185335565

G

A

intronic

De novo

-

-

Trost2022 G

IRF2

1-0844-004

chr4:
185359841-185359841

C

T

intronic

De novo

-

-

Trost2022 G

IRF2

1-0305-004

chr4:
185483643-185483643

C

G

intergenic

De novo

-

-

Yuen2017 G

IRF2

MSSNG00375-003

chr4:
185333026-185333026

G

C

intronic

De novo

-

-

Trost2022 G

IRF2

AU3915301

chr4:
185396511-185396511

G

A

upstream

De novo

-

-

Yuen2017 G

IRF2

2-1501-003

chr4:
185439452-185439452

T

C

intergenic

De novo

-

-

Yuen2017 G

IRF2

2-1502-003

chr4:
185479863-185479863

T

C

intergenic

De novo

-

-

Yuen2017 G

IRF2

200675654@1082034197

chr4:
185320175-185320175

C

T

exonic

De novo

synonymous SNV

NM_002199

c.G588A

p.P196P

7.598

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IRF2

AU4246304

chr4:
185450421-185450421

C

T

intergenic

De novo

-

-

Yuen2017 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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