Variant Results

or

Results for "NR3C2"

Variant Events: 67

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

NR3C2

AU3907302

chr4:
150049811-150049811

A

C

intergenic

De novo

-

Yuen2017 G

NR3C2

7-0044-003

chr4:
149884227-149884227

G

A

intergenic

De novo

-

Yuen2017 G

NR3C2

A28

chr4:
149780750-149780750

G

A

intergenic

De novo

-

Wu2018 G

NR3C2

2-1425-004

chr4:
149303661-149303661

C

T

intronic

De novo

-

Yuen2017 G

NR3C2

2-1086-003

chr4:
149309948-149309948

C

T

intronic

De novo

-

Yuen2017 G

NR3C2

5-0050-003

chr4:
149281746-149281746

A

G

intronic

De novo

-

Yuen2017 G

NR3C2

2-1093-005

chr4:
149930670-149930670

A

T

intergenic

De novo

-

Yuen2017 G

NR3C2

2-1207-003

chr4:
149530470-149530470

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NR3C2

2-1356-003

chr4:
149842038-149842038

C

CA

intergenic

De novo

-

Yuen2016 G

NR3C2

iHART1237

chr4:
149035368-149035369

TC

T

exonic

Maternal

frameshift deletion

NM_001166104
NM_000901

c.2334delG
c.2685delG

p.M778fs
p.M895fs

-

Ruzzo2019 G

NR3C2

2-0122-004

chr4:
149920058-149920058

A

C

intergenic

De novo

-

Yuen2017 G

NR3C2

2-1167-003

chr4:
149266418-149266418

G

A

intronic

De novo

-

Yuen2017 G

NR3C2

2-1502-003

chr4:
150054658-150054658

G

A

intergenic

De novo

-

Yuen2017 G

NR3C2

AU1987302

chr4:
149962317-149962317

A

C

intergenic

De novo

-

Yuen2017 G

NR3C2

AU3636301

chr4:
149792595-149792595

C

G

intergenic

De novo

-

Yuen2017 G

NR3C2

SP0120472

chr4:
149002435-149002435

C

T

UTR3

De novo

-

Fu2022 E

NR3C2

2-1525-003

chr4:
149124617-149124617

T

C

intronic

De novo

-

Yuen2017 G

NR3C2

1-0563-004

chr4:
149182325-149182325

A

G

intronic

De novo

-

Yuen2017 G

NR3C2

2-1146-003

chr4:
149231351-149231351

G

A

intronic

De novo

-

Yuen2017 G

NR3C2

AU012804

chr4:
149323832-149323832

A

G

intronic

De novo

-

Yuen2017 G

NR3C2

1-0248-003

chr4:
149478563-149478563

C

T

intergenic

De novo

-

Yuen2017 G

NR3C2

AU005213

chr4:
150040933-150040933

C

A

intergenic

De novo

-

Yuen2017 G

NR3C2

AU3801301

chr4:
149874850-149874850

C

A

intergenic

De novo

-

Yuen2017 G

NR3C2

2-1128-003

chr4:
149523254-149523254

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NR3C2

AU066206

chr4:
149898898-149898898

G

C

intergenic

De novo

-

Yuen2017 G

NR3C2

2-0003-003

chr4:
149041562-149041562

C

A

intronic

De novo

-

Yuen2017 G

NR3C2

1-0627-006

chr4:
149590050-149590050

C

T

intergenic

De novo

-

Yuen2017 G

NR3C2

14274.p1

chr4:
149035426-149035426

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

NR3C2

12448.p1

chr4:
149075974-149075974

G

A

exonic

De novo

nonsynonymous SNV

NM_000901

c.C2093T

p.P698L

5.41

-

Iossifov2014 E
Kosmicki2017 E

NR3C2

1-0896-003

chr4:
149483829-149483829

G

A

intergenic

De novo

-

Yuen2017 G

NR3C2

7-0175-003

chr4:
149404700-149404700

C

A

intergenic

De novo

-

Yuen2017 G

NR3C2

1-0565-004

chr4:
149768514-149768514

T

TAAA

intergenic

De novo

-

Yuen2017 G

NR3C2

AU4463303

chr4:
149864746-149864754

AGATGGATG

AGATG

intergenic

De novo

-

Yuen2017 G

NR3C2

08C73977

chr4:
149357657-149357657

T

G

exonic

De novo

nonsynonymous SNV

NM_000901
NM_001166104

c.A356C
c.A356C

p.Y119S
p.Y119S

3.265

-

Fu2022 E

NR3C2

1-0010-003

chr4:
149148258-149148258

A

G

intronic

De novo

-

Yuen2017 G

NR3C2

1-0043-003

chr4:
149287636-149287636

C

T

intronic

De novo

-

Yuen2017 G

NR3C2

161296

chr4:
149356646-149356646

G

A

exonic

De novo

nonsynonymous SNV

NM_000901
NM_001166104

c.C1367T
c.C1367T

p.S456L
p.S456L

15.58

-

Fu2022 E

NR3C2

2-1454-003

chr4:
149141719-149141719

C

T

intronic

De novo

-

Yuen2017 G

NR3C2

5-0026-003

chr4:
149492078-149492078

T

G

intergenic

De novo

-

Yuen2017 G

NR3C2

09C95233

chr4:
149357043-149357043

T

C

exonic

De novo

nonsynonymous SNV

NM_000901
NM_001166104

c.A970G
c.A970G

p.S324G
p.S324G

13.82

-

Fu2022 E
Satterstrom2020 E

NR3C2

2-0109-003

chr4:
149139165-149139169

GATAA

G

intronic

De novo

-

Yuen2017 G

NR3C2

AU3900302

chr4:
149907241-149907241

G

A

intergenic

De novo

-

Yuen2017 G

NR3C2

12937.p1

chr4:
149073677-149073677

G

T

exonic

De novo

stopgain

NM_001166104
NM_000901

c.C2102A
c.C2453A

p.S701X
p.S818X

43.0

-

Willsey2013 E

NR3C2

1-0403-003

chr4:
149204219-149204221

CTG

C

intronic

De novo

-

Yuen2017 G

NR3C2

AU4356302

chr4:
149677631-149677631

A

C

intergenic

De novo

-

Yuen2017 G

NR3C2

13197.p1

chr4:
149073677-149073677

G

T

exonic

De novo

stopgain

NM_001166104
NM_000901

c.C2102A
c.C2453A

p.S701X
p.S818X

43.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

NR3C2

13393.p1

chr4:
150059085-150059085

T

C

intergenic

De novo

-

Turner2016 G

NR3C2

2-1702-004

chr4:
149283456-149283456

A

G

intronic

De novo

-

Yuen2017 G

NR3C2

12175.p1

chr4:
149206985-149206985

T

C

intronic

De novo

-

Turner2016 G

NR3C2

11572.p1

chr4:
149999008-149999008

T

C

intergenic

De novo

-

Turner2016 G

NR3C2

2-0129-005

chr4:
150020242-150020242

G

A

intergenic

De novo

-

Yuen2017 G

NR3C2

AU3951302

chr4:
149480763-149480763

T

C

intergenic

De novo

-

Yuen2017 G

NR3C2

1-0885-003

chr4:
149287628-149287628

G

GAA

intronic

De novo

-

Yuen2017 G

NR3C2

AU3692301

chr4:
149720098-149720098

C

T

intergenic

De novo

-

Yuen2017 G

NR3C2

1-0669-003

chr4:
149966635-149966635

C

T

intergenic

De novo

-

Yuen2017 G

NR3C2

2-1579-003

chr4:
149993059-149993059

A

T

intergenic

De novo

-

Yuen2017 G

NR3C2

1-0565-003

chr4:
149601495-149601495

C

A

intergenic

De novo

-

Yuen2017 G

NR3C2

AU3506303

chr4:
149083801-149083801

A

G

intronic

De novo

-

Yuen2017 G

NR3C2

AU2162302

chr4:
149262979-149262979

A

C

intronic

De novo

-

Yuen2017 G

NR3C2

SSC08154

chr4:
149073677-149073677

G

T

exonic

De novo

stopgain

NM_001166104
NM_000901

c.C2102A
c.C2453A

p.S701X
p.S818X

43.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E

NR3C2

12937_p1

chr4:
149357114-149357114

G

C

exonic

De novo

nonsynonymous SNV

NM_000901
NM_001166104

c.C899G
c.C899G

p.P300R
p.P300R

9.289

-

Fu2022 E

NR3C2

12937.p1

chr4:
149357114-149357114

G

C

exonic

De novo

nonsynonymous SNV

NM_000901
NM_001166104

c.C899G
c.C899G

p.P300R
p.P300R

9.289

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

NR3C2

2-0304-003

chr4:
149312435-149312439

TGTGA

T

intronic

De novo

-

Yuen2017 G

NR3C2

2-1277-004

chr4:
149676696-149676696

T

A

intergenic

De novo

-

Yuen2017 G

NR3C2

1-0383-003

chr4:
149064894-149064894

C

T

intronic

De novo

-

Yuen2017 G

NR3C2

Mahjani2021:125

chr4:
149041407-149041407

A

T

exonic

nonsynonymous SNV

NM_001166104
NM_000901

c.T2192A
c.T2543A

p.L731Q
p.L848Q

16.23

-

Mahjani2021 E

NR3C2

2-1148-004

chr4:
149298488-149298488

G

A

intronic

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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