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Results for "RORC"

Variant Events: 6

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
RORC     150999chr1:
151787079-151787079
GAexonicDe novononsynonymous SNVNM_001001523
NM_005060
c.C841T
c.C904T
p.R281W
p.R302W
23.11.835E-5Satterstrom2020 E
RORC     AU3586303chr1:
151779634-151779634
TCUTR3De novo--Yuen2017 G
RORC     12750.p1chr1:
151787420-151787420
CGexonicMosaicsynonymous SNVNM_001001523
NM_005060
c.G717C
c.G780C
p.P239P
p.P260P
--Dou2017 E
RORC     PN400182chr1:
151804213-151804213
GAexonicUnknownstopgainNM_005060c.C28Tp.R10X36.00.0025Leblond2019 E
RORC     AU221Achr1:
151783852-151783852
CTexonicDe novosynonymous SNVNM_001001523
NM_005060
c.G1281A
c.G1344A
p.L427L
p.L448L
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RORC     DEASD_0062_001chr1:
151787862-151787862
CGexonicDe novononsynonymous SNVNM_001001523
NM_005060
c.G275C
c.G338C
p.S92T
p.S113T
17.42-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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