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Results for "DUOX2"

Variant Events: 11

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     iHART2633chr15:
45401085-45401085
GAexonicMaternalstopgainNM_014080c.C1300Tp.R434X41.09.066E-5Ruzzo2019 G
DUOX2     12878.p1chr15:
45391862-45391862
GAexonicDe novononsynonymous SNVNM_014080c.C3413Tp.A1138V19.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
DUOX2     iHART1461chr15:
45399648-45399648
TAexonicMaternalstopgainNM_014080c.A1588Tp.K530X42.07.0E-4Ruzzo2019 G
DUOX2     74-0765chr15:
45386852-45386852
CTexonicInheritednonsynonymous SNVNM_014080c.G4433Ap.R1478Q22.38.424E-6Patowary2019 E
DUOX2     SP0009120chr15:
45389513-45389513
TTAGexonicDe novoframeshift insertionNM_014080c.3769_3770insCTp.Y1257fs--Feliciano2019 E
DUOX2     AU075703chr15:
45404835-45404835
GAexonicDe novononsynonymous SNVNM_014080c.C242Tp.P81L36.0-Yuen2017 G
DUOX2     14211.p1chr15:
45393956-45393956
CTintronicDe novo-1.651E-5Satterstrom2020 E
DUOX2     iHART1454chr15:
45393437-45393437
GAexonicMaternalstopgainNM_014080c.C2887Tp.R963X44.05.326E-5Ruzzo2019 G
DUOX2     iHART1910chr15:
45387794-45387794
CTsplicingMaternalsplicing27.61.649E-5Ruzzo2019 G
DUOX2     JASD_Fam0061chr15:
45403691-45403691
CTexonicDe novosynonymous SNVNM_014080c.G606Ap.Q202Q--Takata2018 E
DUOX2     SSC06821chr15:
45391862-45391862
GAexonicDe novononsynonymous SNVNM_014080c.C3413Tp.A1138V19.2-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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