or
or
Exact

Results for "RORA"

Variant Events: 58

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
RORA     1-0305-004chr15:
61557891-61557891
GAintergenicDe novo--Yuen2017 G
RORA     1-0652-004chr15:
61034486-61034494
GATATGTAAGintronicDe novo--Yuen2017 G
RORA     1-0191-004chr15:
61064566-61064566
TAintronicDe novo--Yuen2017 G
RORA     1-0520-003chr15:
61872643-61872643
ATintergenicDe novo--Yuen2017 G
RORA     1-0253-005chr15:
61159253-61159253
CTintronicDe novo--Yuen2017 G
RORA     1-0226-005chr15:
61778198-61778198
CTintergenicDe novo--Yuen2017 G
RORA     AU056804chr15:
62017512-62017512
TGintergenicDe novo--Yuen2017 G
RORA     1-0652-003chr15:
61034486-61034494
GATATGTAAGintronicDe novo--Yuen2017 G
RORA     3-0465-000chr15:
60806942-60806945
TCTCTexonicDe novononframeshift deletionNM_134262
NM_002943
NM_134261
NM_134260
c.129_131del
c.369_371del
c.294_296del
c.393_395del
p.43_44del
p.123_124del
p.98_99del
p.131_132del
--Tammimies2015 E
RORA     1-0104-004chr15:
61485052-61485052
GAintronicDe novo--Yuen2017 G
RORA     2-1184-003chr15:
62096677-62096677
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
RORA     2-1182-003chr15:
60994590-60994590
CGintronicDe novo--Yuen2016 G
Yuen2017 G
RORA     AU2215302chr15:
61776398-61776398
CTintergenicDe novo--Yuen2017 G
RORA     5-0025-004chr15:
61217123-61217123
CCAintronicDe novo--Yuen2017 G
RORA     2-1182-003chr15:
61446056-61446056
GAintronicDe novo--Yuen2017 G
RORA     1-0998-003chr15:
61293433-61293433
CTintronicDe novo--Yuen2017 G
RORA     1-0533-003chr15:
61834625-61834627
CAGCintergenicDe novo--Yuen2017 G
RORA     1-0579-003chr15:
62017934-62017934
CTintergenicDe novo--Yuen2017 G
RORA     2-0242-005chr15:
61217123-61217123
CCAintronicDe novo--Yuen2017 G
RORA     7-0135-003chr15:
60973412-60973412
CGintronicDe novo--Yuen2017 G
RORA     2-1327-004chr15:
61467333-61467333
GCintronicDe novo--Yuen2017 G
RORA     AU4452302chr15:
61138304-61138304
TCintronicDe novo--Yuen2017 G
RORA     2-1277-003chr15:
61217123-61217123
CCAintronicDe novo--Yuen2017 G
RORA     AU3964302chr15:
61995583-61995583
TCintergenicDe novo--Yuen2017 G
RORA     2-0304-004chr15:
61088683-61088683
CAintronicDe novo--Yuen2017 G
RORA     1-0323-004chr15:
61772684-61772691
GAACCAACGintergenicDe novo--Yuen2017 G
RORA     AU4173301chr15:
61043377-61043377
CTintronicDe novo--Yuen2017 G
RORA     1-0566-003chr15:
61835944-61835944
CTintergenicDe novo--Yuen2017 G
RORA     1-0566-003chr15:
61692946-61692946
ACintergenicDe novo--Yuen2017 G
RORA     2-0016-003chr15:
61032611-61032611
CTintronicDe novo--Yuen2017 G
RORA     1-0706-003chr15:
61583472-61583476
CGGGGCGGGintergenicDe novo--Yuen2017 G
RORA     1-0075-003chr15:
61179791-61179791
CTintronicDe novo--Yuen2017 G
RORA     1-0520-003chr15:
61901243-61901243
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
RORA     AU2863303chr15:
62086810-62086810
AGintergenicDe novo--Yuen2017 G
RORA     AU076508chr15:
61727634-61727634
GAintergenicDe novo--Yuen2017 G
RORA     2-0242-004chr15:
61042014-61042014
CTintronicDe novo--Yuen2017 G
RORA     1-0469-003chr15:
61924102-61924102
CTintergenicDe novo--Yuen2017 G
RORA     AU003405chr15:
61827360-61827360
GAintergenicDe novo--Yuen2017 G
RORA     2-0063-003chr15:
61171484-61171484
GAintronicDe novo--Yuen2017 G
RORA     DEASD_0080_001chr15:
60792113-60792113
CTexonicDe novononsynonymous SNVNM_134262
NM_002943
NM_134261
NM_134260
c.G1220A
c.G1460A
c.G1385A
c.G1484A
p.R407Q
p.R487Q
p.R462Q
p.R495Q
17.59-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RORA     AU2433302chr15:
61976464-61976464
AGintergenicDe novo--Yuen2017 G
RORA     1-0323-003chr15:
61772684-61772691
GAACCAACGintergenicDe novo--Yuen2017 G
RORA     13823.p1chr15:
61993086-61993086
ACintergenicDe novo--Wilfert2021 G
RORA     1-0186-005chr15:
61988937-61988937
AGintergenicDe novo--Yuen2017 G
RORA     5-0061-003chr15:
61409541-61409541
GAintronicDe novo--Yuen2017 G
RORA     13171.p1chr15:
61663999-61663999
GTintergenicDe novo--Turner2016 G
RORA     2-0143-004chr15:
61772286-61772286
TCintergenicDe novo--Yuen2017 G
RORA     AU4012302chr15:
61588364-61588364
CTintergenicDe novo--Yuen2017 G
RORA     1-0490-003chr15:
61871420-61871420
CAintergenicDe novo--Yuen2017 G
RORA     2-0143-004chr15:
61771772-61771772
GAintergenicDe novo--Yuen2017 G
RORA     2-1383-003chr15:
60967699-60967699
TCintronicDe novo--Yuen2017 G
RORA     13946.p1chr15:
61332427-61332427
TCintronicDe novo--Turner2016 G
RORA     13874.p1chr15:
61521565-61521565
GAupstreamDe novo--Turner2016 G
RORA     AU4315302chr15:
61174255-61174255
CTintronicDe novo--Yuen2017 G
RORA     2-0143-004chr15:
61785244-61785244
GAintergenicDe novo--Yuen2017 G
RORA     7-0077-003chr15:
62127893-62127893
GAintergenicDe novo--Yuen2017 G
RORA     2-1337-003chr15:
61418778-61418778
TAintronicDe novo--Yuen2016 G
Yuen2017 G
RORA     AU4237304chr15:
60950041-60950041
CTintronicDe 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 notesView
More