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Results for "ARNT2"

Variant Events: 21

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
ARNT2     1-0353-003chr15:
80781279-80781279
CTintronicDe novo--Yuen2017 G
ARNT2     2-0002-005chr15:
80769701-80769701
GAintronicDe novo--Yuen2017 G
ARNT2     AU3051303chr15:
80923155-80923155
AGintergenicDe novo--Yuen2017 G
ARNT2     AU024105chr15:
80970208-80970208
CTintergenicDe novo--Yuen2017 G
ARNT2     1-0433-003chr15:
80859838-80859838
GCintronicDe novo--Yuen2017 G
ARNT2     1-0323-003chr15:
80780805-80780805
AGintronicDe novo--Yuen2017 G
ARNT2     2-1502-003chr15:
80728373-80728373
CAintronicDe novo--Yuen2017 G
ARNT2     1-0279-004chr15:
80881954-80881954
AGintronicDe novo--Yuen2017 G
ARNT2     1-0052-003chr15:
80751086-80751086
TGintronicDe novo--Yuen2017 G
ARNT2     AU1521301chr15:
80706505-80706505
CTintronicDe novo--Yuen2017 G
ARNT2     F2-003chr15:
80847464-80847464
GAexonicPaternalnonsynonymous SNVNM_014862c.G1148Ap.R383H19.994.135E-5Vaags2012 E
ARNT2     1-0994-003chr15:
80819103-80819103
CTintronicDe novo--Yuen2017 G
ARNT2     09C96107chr15:
80806697-80806697
AGexonicDe novosynonymous SNVNM_014862c.A828Gp.Q276Q--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
ARNT2     2-1617-003chr15:
80740048-80740048
CTintronicDe novo--Yuen2017 G
ARNT2     10C104999chr15:
80743314-80743314
GAexonicDe novononsynonymous SNVNM_014862c.G125Ap.R42H28.14.132E-5Satterstrom2020 E
ARNT2     AU039304chr15:
80780153-80780153
TCintronicDe novo--Yuen2017 G
ARNT2     1-0509-003chr15:
80873014-80873014
CAintronicDe novo--Yuen2016 G
Yuen2017 G
ARNT2     2-0323-004chr15:
80710346-80710346
AGintronicDe novo--Yuen2017 G
ARNT2     2-1329-003chr15:
80980003-80980003
GAintergenicDe novo--Yuen2017 G
ARNT2     1-0246-004chr15:
80811950-80811955
CCAGAACintronicDe novo--Yuen2017 G
ARNT2     1-0246-005chr15:
80811950-80811955
CCAGAACintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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