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Results for "NR3C2"
Variant Events: 87
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
-
-
Trost2022
G
Yuen2017
G
NR3C2
mAGRE1237
chr4:
149035368-149035369
TC
T
exonic
Maternal
frameshift deletion
NM_001166104
NM_000901
c.2334delG
c.2685delG
p.M778fs
p.M895fs
-
-
Cirnigliaro2023
G
NR3C2
2-1086-003
chr4:
149309948-149309948
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
NR3C2
5-0050-003
chr4:
149281746-149281746
A
G
intronic
De novo
-
-
Trost2022
G
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
-
-
Trost2022
G
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
Trost2022
G
NR3C2
2-1525-003
chr4:
149124617-149124617
T
C
intronic
De novo
-
-
Trost2022
G
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
-
-
Trost2022
G
Yuen2017
G
NR3C2
AU012804
chr4:
149323832-149323832
A
G
intronic
De novo
-
-
Trost2022
G
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
-
-
Trost2022
G
Yuen2017
G
NR3C2
SP0060869
chr4:
149115957-149115957
G
A
exonic
stopgain
NM_000901
NM_001166104
c.C1954T
c.C1954T
p.R652X
p.R652X
41.0
-
Zhou2022
G
E
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
Zhou2022
G
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
SP0315250
chr4:
149357145-149357146
TA
T
exonic
frameshift deletion
NM_000901
NM_001166104
c.867delT
c.867delT
p.N289fs
p.N289fs
-
-
Zhou2022
G
E
NR3C2
1-0010-003
chr4:
149148258-149148258
A
G
intronic
De novo
-
-
Trost2022
G
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
-
-
Trost2022
G
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
Trost2022
G
Zhou2022
G
E
NR3C2
MT_75.3
chr4:
149052383-149052383
C
T
intronic
De novo
-
-
Trost2022
G
NR3C2
2-0109-003
chr4:
149139165-149139169
GATAA
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
NR3C2
4-0073-003
chr4:
149119265-149119267
GAA
AAT
intronic
De novo
-
-
Trost2022
G
NR3C2
AU3900302
chr4:
149907241-149907241
G
A
intergenic
De novo
-
-
Yuen2017
G
NR3C2
5-5083-003
chr4:
149043267-149043267
T
C
intronic
De novo
-
-
Trost2022
G
NR3C2
REACH000454
chr4:
149044712-149044712
G
A
intronic
De novo
-
-
Trost2022
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
2-0006-004
chr4:
149028723-149028725
GAC
AAT
intronic
De novo
-
-
Trost2022
G
NR3C2
1-0403-003
chr4:
149204219-149204221
CTG
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
NR3C2
SSC10456
chr4:
149035426-149035426
A
G
intronic
De novo
-
-
Trost2022
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
Zhou2022
G
E
NR3C2
4-0022-003
chr4:
149281697-149281697
A
G
intronic
De novo
-
-
Trost2022
G
NR3C2
5-0009-003
chr4:
149319060-149319060
T
C
intronic
De novo
-
-
Trost2022
G
NR3C2
AU023012
chr4:
149253812-149253812
G
T
intronic
De novo
-
-
Trost2022
G
NR3C2
AU055603
chr4:
149274193-149274193
A
G
intronic
De novo
-
-
Trost2022
G
NR3C2
13393.p1
chr4:
150059085-150059085
T
C
intergenic
De novo
-
-
Turner2016
G
NR3C2
REACH000569
chr4:
149235292-149235292
T
C
intronic
De novo
-
-
Trost2022
G
NR3C2
2-1702-004
chr4:
149283456-149283456
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
NR3C2
MSSNG00255-004
chr4:
149253247-149253247
T
C
intronic
De novo
-
-
Trost2022
G
NR3C2
12175.p1
chr4:
149206985-149206985
T
C
intronic
De novo
-
-
Turner2016
G
NR3C2
MSSNG00038-004
chr4:
149147046-149147046
A
G
intronic
De novo
-
-
Trost2022
G
NR3C2
11572.p1
chr4:
149999008-149999008
T
C
intergenic
De novo
-
-
Turner2016
G
NR3C2
3-0847-000
chr4:
149228201-149228201
G
A
intronic
De novo
-
-
Trost2022
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
2-1807-003
chr4:
149324346-149324346
C
G
intronic
De novo
-
-
Trost2022
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
SP0037663
chr4:
149365443-149365443
G
A
intergenic
De novo
-
-
Trost2022
G
NR3C2
1-0565-003
chr4:
149601495-149601495
C
A
intergenic
De novo
-
-
Yuen2017
G
NR3C2
SP0101498
chr4:
149002637-149002652
AGGTCGCTCACCAGCT
TGGTC
exonic
nonframeshift substitution
NM_001166104
NM_000901
c.2449_2462GACCA
c.2800_2813GACCA
N/A
N/A
-
-
Zhou2022
G
E
NR3C2
AU3506303
chr4:
149083801-149083801
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
NR3C2
AU2162302
chr4:
149262979-149262979
A
C
intronic
De novo
-
-
Trost2022
G
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
G
E
Fu2022
E
Lim2017
E
Trost2022
G
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
Trost2022
G
Wilfert2021
G
Zhou2022
G
E
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
-
-
Trost2022
G
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
-
-
Trost2022
G
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
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