Variant Results

or

Results for "ARNT2"

Variant Events: 35

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

2-0002-005

chr15:
80769701-80769701

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

AU3051303

chr15:
80923155-80923155

A

G

intergenic

De novo

-

Yuen2017 G

ARNT2

MSSNG00045-005

chr15:
80857569-80857569

G

A

intronic

De novo

-

Trost2022 G

ARNT2

SP0007745

chr15:
80800481-80800481

C

G

intronic

De novo

-

Trost2022 G

ARNT2

AU2463301

chr15:
80830096-80830096

C

T

intronic

De novo

-

Trost2022 G

ARNT2

1-0433-003

chr15:
80859838-80859838

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

1-1144-003

chr15:
80774921-80774925

CAAAA

C

intronic

De novo

-

Trost2022 G

ARNT2

7-0257-003

chr15:
80799506-80799506

G

T

intronic

De novo

-

Trost2022 G

ARNT2

AU023012

chr15:
80759034-80759034

G

A

intronic

De novo

-

Trost2022 G

ARNT2

REACH000582

chr15:
80765937-80765937

C

T

intronic

De novo

-

Trost2022 G

ARNT2

2-1502-003

chr15:
80728373-80728373

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

F2-003

chr15:
80847464-80847464

G

A

exonic

Paternal

nonsynonymous SNV

NM_014862

c.G1148A

p.R383H

19.99

4.135E-5

Vaags2012 E

ARNT2

4-0043-003

chr15:
80878745-80878745

G

A

intronic

De novo

-

Trost2022 G

ARNT2

SP0134098

chr15:
80884056-80884056

C

T

intronic

De novo

-

9.908E-5

Fu2022 E
Trost2022 G

ARNT2

AU039304

chr15:
80780153-80780153

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

1-0509-003

chr15:
80873014-80873014

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARNT2

1-0353-003

chr15:
80781279-80781279

C

T

intronic

De novo

-

Yuen2017 G

ARNT2

AU024105

chr15:
80970208-80970208

C

T

intergenic

De novo

-

Yuen2017 G

ARNT2

1-0323-003

chr15:
80780805-80780805

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

1-0279-004

chr15:
80881954-80881954

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

1-0052-003

chr15:
80751086-80751086

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

AU1521301

chr15:
80706505-80706505

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

1-0994-003

chr15:
80819103-80819103

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

09C96107

chr15:
80806697-80806697

A

G

exonic

De novo

synonymous SNV

NM_014862

c.A828G

p.Q276Q

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARNT2

2-1617-003

chr15:
80740048-80740048

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

10C104999

chr15:
80743314-80743314

G

A

exonic

De novo

nonsynonymous SNV

NM_014862

c.G125A

p.R42H

28.1

4.132E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARNT2

5-1012-003

chr15:
80738193-80738193

G

A

intronic

De novo

-

Trost2022 G

ARNT2

2-1086-004

chr15:
80757740-80757744

CTGCT

GAGGG

intronic

De novo

-

Trost2022 G

ARNT2

2-0323-004

chr15:
80710346-80710346

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

2-1329-003

chr15:
80980003-80980003

G

A

intergenic

De novo

-

Yuen2017 G

ARNT2

1-0903-004

chr15:
80710261-80710269

GTTGTTCTC

G

intronic

De novo

-

Trost2022 G

ARNT2

3-0107-001

chr15:
80735668-80735668

G

A

intronic

De novo

-

Trost2022 G

ARNT2

1-0246-004

chr15:
80811950-80811955

CCAGAA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

1-0246-005

chr15:
80811950-80811955

CCAGAA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNT2

7-0295-003

chr15:
80847431-80847431

A

C

exonic

De novo

nonsynonymous SNV

NM_014862

c.A1115C

p.E372A

22.1

-

Trost2022 G
Zhou2022 GE

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