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Results for "NR3C2"

Variant Events: 63

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     AU3907302chr4:
150049811-150049811
ACintergenicDe novo--Yuen2017 G
NR3C2     7-0044-003chr4:
149884227-149884227
GAintergenicDe novo--Yuen2017 G
NR3C2     A28chr4:
149780750-149780750
GAintergenicDe novo--Wu2018 G
NR3C2     2-1425-004chr4:
149303661-149303661
CTintronicDe novo--Yuen2017 G
NR3C2     2-1086-003chr4:
149309948-149309948
CTintronicDe novo--Yuen2017 G
NR3C2     5-0050-003chr4:
149281746-149281746
AGintronicDe novo--Yuen2017 G
NR3C2     2-1093-005chr4:
149930670-149930670
ATintergenicDe novo--Yuen2017 G
NR3C2     2-1207-003chr4:
149530470-149530470
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
NR3C2     2-1356-003chr4:
149842038-149842038
CCAintergenicDe novo--Yuen2016 G
NR3C2     iHART1237chr4:
149035368-149035369
TCTexonicMaternalframeshift deletionNM_001166104
NM_000901
c.2334delG
c.2685delG
p.M778fs
p.M895fs
--Ruzzo2019 G
NR3C2     2-0122-004chr4:
149920058-149920058
ACintergenicDe novo--Yuen2017 G
NR3C2     2-1167-003chr4:
149266418-149266418
GAintronicDe novo--Yuen2017 G
NR3C2     2-1502-003chr4:
150054658-150054658
GAintergenicDe novo--Yuen2017 G
NR3C2     AU1987302chr4:
149962317-149962317
ACintergenicDe novo--Yuen2017 G
NR3C2     AU3636301chr4:
149792595-149792595
CGintergenicDe novo--Yuen2017 G
NR3C2     2-1525-003chr4:
149124617-149124617
TCintronicDe novo--Yuen2017 G
NR3C2     1-0563-004chr4:
149182325-149182325
AGintronicDe novo--Yuen2017 G
NR3C2     2-1146-003chr4:
149231351-149231351
GAintronicDe novo--Yuen2017 G
NR3C2     AU012804chr4:
149323832-149323832
AGintronicDe novo--Yuen2017 G
NR3C2     1-0248-003chr4:
149478563-149478563
CTintergenicDe novo--Yuen2017 G
NR3C2     AU005213chr4:
150040933-150040933
CAintergenicDe novo--Yuen2017 G
NR3C2     AU3801301chr4:
149874850-149874850
CAintergenicDe novo--Yuen2017 G
NR3C2     2-1128-003chr4:
149523254-149523254
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NR3C2     AU066206chr4:
149898898-149898898
GCintergenicDe novo--Yuen2017 G
NR3C2     2-0003-003chr4:
149041562-149041562
CAintronicDe novo--Yuen2017 G
NR3C2     1-0627-006chr4:
149590050-149590050
CTintergenicDe novo--Yuen2017 G
NR3C2     14274.p1chr4:
149035426-149035426
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NR3C2     12448.p1chr4:
149075974-149075974
GAexonicDe novononsynonymous SNVNM_000901c.C2093Tp.P698L5.41-Iossifov2014 E
Kosmicki2017 E
NR3C2     1-0896-003chr4:
149483829-149483829
GAintergenicDe novo--Yuen2017 G
NR3C2     7-0175-003chr4:
149404700-149404700
CAintergenicDe novo--Yuen2017 G
NR3C2     1-0565-004chr4:
149768514-149768514
TTAAAintergenicDe novo--Yuen2017 G
NR3C2     AU4463303chr4:
149864746-149864754
AGATGGATGAGATGintergenicDe novo--Yuen2017 G
NR3C2     1-0010-003chr4:
149148258-149148258
AGintronicDe novo--Yuen2017 G
NR3C2     1-0043-003chr4:
149287636-149287636
CTintronicDe novo--Yuen2017 G
NR3C2     2-1454-003chr4:
149141719-149141719
CTintronicDe novo--Yuen2017 G
NR3C2     5-0026-003chr4:
149492078-149492078
TGintergenicDe novo--Yuen2017 G
NR3C2     09C95233chr4:
149357043-149357043
TCexonicDe novononsynonymous SNVNM_000901
NM_001166104
c.A970G
c.A970G
p.S324G
p.S324G
13.82-Satterstrom2020 E
NR3C2     2-0109-003chr4:
149139165-149139169
GATAAGintronicDe novo--Yuen2017 G
NR3C2     AU3900302chr4:
149907241-149907241
GAintergenicDe novo--Yuen2017 G
NR3C2     12937.p1chr4:
149073677-149073677
GTexonicDe novostopgainNM_001166104
NM_000901
c.C2102A
c.C2453A
p.S701X
p.S818X
43.0-Willsey2013 E
NR3C2     1-0403-003chr4:
149204219-149204221
CTGCintronicDe novo--Yuen2017 G
NR3C2     AU4356302chr4:
149677631-149677631
ACintergenicDe novo--Yuen2017 G
NR3C2     13197.p1chr4:
149073677-149073677
GTexonicDe novostopgainNM_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.p1chr4:
150059085-150059085
TCintergenicDe novo--Turner2016 G
NR3C2     2-1702-004chr4:
149283456-149283456
AGintronicDe novo--Yuen2017 G
NR3C2     12175.p1chr4:
149206985-149206985
TCintronicDe novo--Turner2016 G
NR3C2     11572.p1chr4:
149999008-149999008
TCintergenicDe novo--Turner2016 G
NR3C2     2-0129-005chr4:
150020242-150020242
GAintergenicDe novo--Yuen2017 G
NR3C2     AU3951302chr4:
149480763-149480763
TCintergenicDe novo--Yuen2017 G
NR3C2     1-0885-003chr4:
149287628-149287628
GGAAintronicDe novo--Yuen2017 G
NR3C2     AU3692301chr4:
149720098-149720098
CTintergenicDe novo--Yuen2017 G
NR3C2     1-0669-003chr4:
149966635-149966635
CTintergenicDe novo--Yuen2017 G
NR3C2     2-1579-003chr4:
149993059-149993059
ATintergenicDe novo--Yuen2017 G
NR3C2     1-0565-003chr4:
149601495-149601495
CAintergenicDe novo--Yuen2017 G
NR3C2     AU3506303chr4:
149083801-149083801
AGintronicDe novo--Yuen2017 G
NR3C2     AU2162302chr4:
149262979-149262979
ACintronicDe novo--Yuen2017 G
NR3C2     SSC08154chr4:
149073677-149073677
GTexonicDe novostopgainNM_001166104
NM_000901
c.C2102A
c.C2453A
p.S701X
p.S818X
43.0-Lim2017 E
NR3C2     12937.p1chr4:
149357114-149357114
GCexonicDe novononsynonymous SNVNM_000901
NM_001166104
c.C899G
c.C899G
p.P300R
p.P300R
9.289-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
NR3C2     2-0304-003chr4:
149312435-149312439
TGTGATintronicDe novo--Yuen2017 G
NR3C2     2-1277-004chr4:
149676696-149676696
TAintergenicDe novo--Yuen2017 G
NR3C2     1-0383-003chr4:
149064894-149064894
CTintronicDe novo--Yuen2017 G
NR3C2     Mahjani2021:125chr4:
149041407-149041407
ATexonicnonsynonymous SNVNM_001166104
NM_000901
c.T2192A
c.T2543A
p.L731Q
p.L848Q
16.23-Mahjani2021 E
NR3C2     2-1148-004chr4:
149298488-149298488
GAintronicDe novo--Yuen2017 G
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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