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Results for "NCOR1"

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
NCOR1     M15179chr17:
15973828-15973828
TCexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.A4212G
c.A4164G
p.I1404M
p.I1388M
10.491.658E-5Wang2016 T
NCOR1     M23142chr17:
15973828-15973828
TCexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.A4212G
c.A4164G
p.I1404M
p.I1388M
10.491.658E-5Wang2016 T
NCOR1     M21569chr17:
15952159-15952159
CGexonicMaternalnonsynonymous SNVNM_001190440
NM_006311
c.G6227C
c.G6536C
p.R2076T
p.R2179T
14.541.663E-5Wang2016 T
NCOR1     M4323chr17:
15983364-15983364
TCexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.A3463G
c.A3415G
p.I1155V
p.I1139V
0.0918.238E-6Wang2016 T
NCOR1     AU056204chr17:
15979660-15979660
GAintronicDe novo--Yuen2017 G
NCOR1     M8434chr17:
15973548-15973548
GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.C4492T
c.C4444T
p.R1498W
p.R1482W
21.1-Wang2016 T
Wang2020 T
Wang2020 T
NCOR1     HEN0088.p1chr17:
15950303-15950303
CTexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.G6332A
c.G6641A
p.R2111H
p.R2214H
18.681.648E-5Wang2020 T
Wang2020 T
NCOR1     74-0117chr17:
15974374-15974374
CTintronicInherited--Michaelson2012 G
NCOR1     M17481chr17:
15950299-15950299
CGexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.G6336C
c.G6645C
p.K2112N
p.K2215N
22.28.24E-6Wang2020 T
Wang2020 T
NCOR1     1-0225-003chr17:
16083185-16083185
GAintronicDe novo--Yuen2017 G
NCOR1     M20828chr17:
16056693-16056693
GAexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.C422T
c.C749T
c.C749T
p.A141V
p.A250V
p.A250V
16.99-Wang2020 T
Wang2020 T
NCOR1     13587.p1chr17:
16024513-16024513
GAexonicDe novononsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.C1378T
c.C1705T
c.C1705T
p.P460S
p.P569S
p.P569S
13.241.649E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
NCOR1     M31830chr17:
15950397-15950397
GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.C6238T
c.C6547T
p.R2080C
p.R2183C
15.654.183E-5Wang2020 T
Wang2020 T
NCOR1     HEN0241.p1chr17:
15950299-15950299
CGexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.G6336C
c.G6645C
p.K2112N
p.K2215N
22.28.24E-6Wang2020 T
Wang2020 T
Wang2020 T
NCOR1     GX0255.p1chr17:
16075191-16075191
GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.C361T
c.C361T
p.R121C
p.R121C
14.92-Wang2020 T
Wang2020 T
NCOR1     M13346chr17:
16062162-16062162
TAexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.A317T
c.A644T
c.A644T
p.K106I
p.K215I
p.K215I
16.22-Stessman2017 T
Wang2020 T
Wang2020 T
NCOR1     M20570chr17:
15968204-15968204
TCexonicMaternalnonsynonymous SNVNM_001190440
NM_006311
c.A5129G
c.A5081G
p.N1710S
p.N1694S
8.1868.293E-6Wang2016 T
NCOR1     M20748chr17:
15973620-15973620
CTexonicMaternalnonsynonymous SNVNM_001190440
NM_006311
c.G4420A
c.G4372A
p.V1474I
p.V1458I
19.221.647E-5Wang2016 T
NCOR1     1-0395-004chr17:
16055582-16055582
TTAintronicDe novo--Yuen2017 G
NCOR1     AU4032305chr17:
16060073-16060077
AACACAACintronicDe novo--Yuen2017 G
NCOR1     HEN425.p1; chr17:
15983379-15983379
CGsplicingUnknownsplicing10.338.245E-5Wang2020 T
NCOR1     M8698chr17:
16004694-16004694
CTexonicMaternalnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.G2281A
c.G2608A
c.G2560A
p.E761K
p.E870K
p.E854K
15.068.238E-6Wang2016 T
NCOR1     HN0128.p1chr17:
15964747-15964747
CTexonicMaternalnonsynonymous SNVNM_006311c.G5849Ap.R1950H32.0-Guo2018 T
Wang2020 T
Wang2020 T
NCOR1     M20719chr17:
16089979-16089979
CTexonicMaternalnonsynonymous SNVNM_001190440
NM_006311
c.G131A
c.G131A
p.R44H
p.R44H
15.871.649E-5Wang2016 T
NCOR1     M12462chr17:
15983352-15983352
TCexonicMaternalnonsynonymous SNVNM_001190440
NM_006311
c.A3475G
c.A3427G
p.S1159G
p.S1143G
26.5-Wang2016 T
NCOR1     M15204chr17:
16004694-16004694
CTexonicMaternalnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.G2281A
c.G2608A
c.G2560A
p.E761K
p.E870K
p.E854K
15.068.238E-6Wang2016 T
NCOR1     1-0673-003chr17:
16118185-16118185
TCintronicDe novo--Yuen2017 G
NCOR1     HEN0359.p1chr17:
15967388-15967388
GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.C5263T
c.C5215T
p.R1755W
p.R1739W
27.58.248E-6Wang2020 T
Wang2020 T
NCOR1     AU4099301chr17:
16022350-16022350
CTintronicDe novo--Yuen2017 G
NCOR1     M08551chr17:
15989699-15989699
GAexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.C3122T
c.C3074T
p.P1041L
p.P1025L
32.02.474E-5Guo2018 T
Wang2016 T
NCOR1     AU3076302chr17:
16006659-16006659
TCintronicDe novo--Yuen2017 G
NCOR1     M15142chr17:
15964871-15964871
GAexonicPaternalnonsynonymous SNVNM_006311c.C5725Tp.P1909S16.41-Wang2016 T
NCOR1     217-14143-2410chr17:
15968982-15968982
GAexonicInherited, UnknownstopgainNM_001190440
NM_006311
c.C4816T
c.C4768T
p.Q1606X
p.Q1590X
38.0-Stessman2017 T
Wang2020 T
Wang2020 T
NCOR1     M8267chr17:
15968261-15968261
AGexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.T5072C
c.T5024C
p.M1691T
p.M1675T
22.1-Wang2016 T
NCOR1     M15225chr17:
15983379-15983379
CGsplicingUnknown, De novosplicing10.338.245E-5Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
NCOR1     M18431chr17:
15952228-15952228
GAexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.C6158T
c.C6467T
p.P2053L
p.P2156L
13.333.298E-5Wang2016 T
NCOR1     M23220chr17:
15952228-15952228
GAexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.C6158T
c.C6467T
p.P2053L
p.P2156L
13.333.298E-5Wang2016 T
NCOR1     M20589chr17:
16024548-16024548
GAexonicPaternalnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.C1343T
c.C1670T
c.C1670T
p.T448I
p.T557I
p.T557I
10.958.245E-5Wang2016 T
NCOR1     M18491chr17:
16024548-16024548
GAexonicPaternalnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.C1343T
c.C1670T
c.C1670T
p.T448I
p.T557I
p.T557I
10.958.245E-5Wang2016 T
NCOR1     M19741chr17:
16024548-16024548
GAexonicPaternalnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.C1343T
c.C1670T
c.C1670T
p.T448I
p.T557I
p.T557I
10.958.245E-5Wang2016 T
NCOR1     3-0482-000chr17:
16042054-16042059
TTATAATintronicDe novo--Yuen2017 G
NCOR1     Codina-Sola2015:ASD_14chr17:
15943753-15943753
AGsplicingMaternalsplicing20.5-Codina-Sola2015 E
NCOR1     04C31683chr17:
15950390-15950390
GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.C6245T
c.C6554T
p.P2082L
p.P2185L
15.74-Stessman2017 T
Wang2020 T
Wang2020 T
NCOR1     64803513chr17:
15938257-15938257
TCexonicUnknownsynonymous SNVNM_001190440
NM_006311
c.A6648G
c.A6957G
p.G2216G
p.G2319G
16.112.0E-4Wang2020 T
Wang2020 T
NCOR1     148_1_a.2.1chr17:
15978871-15978871
CTexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.G3695A
c.G3647A
p.S1232N
p.S1216N
16.53-Wang2020 T
Wang2020 T
NCOR1     M8790chr17:
15960943-15960943
CTexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.G5968A
c.G6277A
p.V1990M
p.V2093M
12.078.237E-6Wang2016 T
NCOR1     60681732chr17:
15961250-15961250
GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.C5830T
c.C6139T
p.R1944W
p.R2047W
23.58.255E-6Wang2020 T
Wang2020 T
NCOR1     254271chr17:
15983343-15983343
GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.C3484T
c.C3436T
p.R1162W
p.R1146W
23.12.471E-5Wang2020 T
Wang2020 T
NCOR1     M12357chr17:
15960907-15960907
AGexonicMaternalnonsynonymous SNVNM_001190440
NM_006311
c.T6004C
c.T6313C
p.S2002P
p.S2105P
10.79-Wang2016 T
NCOR1     M21592chr17:
15961815-15961815
GAexonicMaternalnonsynonymous SNVNM_001190440
NM_006311
c.C5671T
c.C5980T
p.P1891S
p.P1994S
6.8083.295E-5Wang2016 T
NCOR1     M17485chr17:
15995222-15995222
TCexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.A2692G
c.A3019G
c.A2971G
p.T898A
p.T1007A
p.T991A
10.215.766E-5Wang2016 T
NCOR1     M26789chr17:
15964867-15964867
GAexonicMaternalnonsynonymous SNVNM_006311c.C5729Tp.P1910L22.41.0E-4Wang2016 T
NCOR1     M8584chr17:
15964867-15964867
GAexonicMaternalnonsynonymous SNVNM_006311c.C5729Tp.P1910L22.41.0E-4Wang2016 T
NCOR1     M23785chr17:
15968204-15968204
TCexonicUnknownnonsynonymous SNVNM_001190440
NM_006311
c.A5129G
c.A5081G
p.N1710S
p.N1694S
8.1868.293E-6Wang2016 T
NCOR1     M18488chr17:
15964867-15964867
GAexonicMaternalnonsynonymous SNVNM_006311c.C5729Tp.P1910L22.41.0E-4Wang2016 T
NCOR1     M23757chr17:
15964867-15964867
GAexonicMaternalnonsynonymous SNVNM_006311c.C5729Tp.P1910L22.41.0E-4Wang2016 T
NCOR1     M15076chr17:
15973499-15973499
ACexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.T4541G
c.T4493G
p.M1514R
p.M1498R
22.7-Wang2016 T
NCOR1     AU011704chr17:
15974374-15974374
CTintronicDe novo--Yuen2017 G
NCOR1     M13401chr17:
15965499-15965499
TAexonicPaternalnonsynonymous SNVNM_001190440
NM_006311
c.A5355T
c.A5307T
p.Q1785H
p.Q1769H
19.31-Wang2016 T
NCOR1     AU4183301chr17:
16087630-16087630
GCintronicDe novo--Yuen2017 G
NCOR1     5-0004-003chr17:
15991253-15991253
CTintronicDe novo--Yuen2017 G
NCOR1     HEN425.p1chr17:
15983379-15983379
CGsplicingUnknownsplicing10.338.245E-5Wang2020 T
Wang2020 T
NCOR1     HEN0280.p1chr17:
15995263-15995263
CTexonicPaternalnonsynonymous SNVNM_001190438
NM_001190440
NM_006311
c.G2651A
c.G2978A
c.G2930A
p.R884Q
p.R993Q
p.R977Q
30.02.471E-5Guo2018 T
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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