Variant Results

or

or

Results for "DUOX2"

Variant Events: 15

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

DUOX2

SP0059729

chr15:
45404237-45404237

G

T

intronic

De novo

-

-

Fu2022 E

DUOX2

12878.p1

chr15:
45391862-45391862

G

A

exonic

De novo

nonsynonymous SNV

NM_014080

c.C3413T

p.A1138V

19.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

DUOX2

74-0765

chr15:
45386852-45386852

C

T

exonic

Inherited

nonsynonymous SNV

NM_014080

c.G4433A

p.R1478Q

22.3

Patowary2019 E

DUOX2

SP0037381

chr15:
45392907-45392907

C

G

intronic

De novo

-

-

Fu2022 E

DUOX2

SP0131067

chr15:
45387301-45387301

G

A

intronic

De novo

-

-

Fu2022 E

DUOX2

JASD_Fam0061

chr15:
45403691-45403691

C

T

exonic

De novo

synonymous SNV

NM_014080

c.G606A

p.Q202Q

-

-

Takata2018 E

DUOX2

SSC06821

chr15:
45391862-45391862

G

A

exonic

De novo

nonsynonymous SNV

NM_014080

c.C3413T

p.A1138V

19.2

-

Fu2022 E
Lim2017 E

DUOX2

iHART2633

chr15:
45401085-45401085

G

A

exonic

Maternal

stopgain

NM_014080

c.C1300T

p.R434X

41.0

Ruzzo2019 G

DUOX2

iHART1461

chr15:
45399648-45399648

T

A

exonic

Maternal

stopgain

NM_014080

c.A1588T

p.K530X

42.0

Ruzzo2019 G

DUOX2

SP0009120

chr15:
45389513-45389513

T

TAG

exonic

De novo

frameshift insertion

NM_014080

c.3769_3770insCT

p.Y1257fs

-

-

Feliciano2019 E
Fu2022 E

DUOX2

AU075703

chr15:
45404835-45404835

G

A

exonic

De novo

nonsynonymous SNV

NM_014080

c.C242T

p.P81L

36.0

-

Yuen2017 G

DUOX2

14211.p1

chr15:
45393956-45393956

C

T

intronic

De novo

-

Satterstrom2020 E

DUOX2

iHART1454

chr15:
45393437-45393437

G

A

exonic

Maternal

stopgain

NM_014080

c.C2887T

p.R963X

44.0

Ruzzo2019 G

DUOX2

iHART1910

chr15:
45387794-45387794

C

T

splicing

Maternal

splicing

27.6

Ruzzo2019 G

DUOX2

SP0063883

chr15:
45394001-45394001

T

A

exonic

De novo

synonymous SNV

NM_014080

c.A2841T

p.G947G

-

-

Fu2022 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 notes	View
	More