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Results for "NCOR1"

Variant Events: 96

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     TASC_217-14143-2410chr17:
15968982-15968982		GAexonicUnknownstopgainNM_001190440
NM_006311		c.C4816T
c.C4768T		p.Q1606X
p.Q1590X		38.0-Wang2020 T
NCOR1     ACGC_M15225chr17:
15983379-15983379		CGsplicingDe novosplicing10.338.245E-5Wang2020 T
NCOR1     ACGC_M8434chr17:
15973548-15973548		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C4492T
c.C4444T		p.R1498W
p.R1482W		21.1-Wang2020 T
NCOR1     Wang2023:63chr17:
16024413-16024413		GAexonicDe novononsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.C1478T
c.C1805T
c.C1805T		p.A493V
p.A602V
p.A602V		25.68.262E-6Wang2023 E
NCOR1     1031chr17:
16075157-16075157		GAexonicDe novononsynonymous SNVNM_001190440
NM_006311		c.C395T
c.C395T		p.P132L
p.P132L		11.169.444E-6Trost2022 G
Zhou2022 GE
NCOR1     SP0028576chr17:
16068483-16068483		GTintronic-1.66E-5Zhou2022 GE
NCOR1     AU056204chr17:
15979660-15979660		GAintronicDe novo--Trost2022 G
Yuen2017 G
NCOR1     M8434chr17:
15973548-15973548		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C4492T
c.C4444T		p.R1498W
p.R1482W		21.1-Wang2016 T
NCOR1     2-1075-003chr17:
16089881-16089881		GCexonicDe novononsynonymous SNVNM_001190440
NM_006311		c.C229G
c.C229G		p.P77A
p.P77A		13.648.263E-6Trost2022 G
Zhou2022 GE
NCOR1     74-0117chr17:
15974374-15974374		CTintronicInherited--Michaelson2012 G
NCOR1     1-0225-003chr17:
16083185-16083185		GAintronicDe novo--Yuen2017 G
NCOR1     13587.p1chr17:
16024513-16024513		GAexonicUnknown, De 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
Zhou2022 GE
NCOR1     ACGC_HEN425.p1chr17:
15983379-15983379		CGsplicingUnknownsplicing10.338.245E-5Wang2020 T
NCOR1     ACGC_M13346chr17:
16062162-16062162		TAexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.A317T
c.A644T
c.A644T		p.K106I
p.K215I
p.K215I		16.22-Wang2020 T
NCOR1     ACGC_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
NCOR1     Leuven_254271chr17:
15983343-15983343		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C3484T
c.C3436T		p.R1162W
p.R1146W		23.12.471E-5Wang2020 T
NCOR1     ACGC_GX0255.p1chr17:
16075191-16075191		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C361T
c.C361T		p.R121C
p.R121C		14.92-Wang2020 T
NCOR1     ACGC_M31830chr17:
15950397-15950397		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C6238T
c.C6547T		p.R2080C
p.R2183C		15.654.183E-5Wang2020 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
NCOR1     Iowa_148_1_a.2.1chr17:
15978871-15978871		CTexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G3695A
c.G3647A		p.S1232N
p.S1216N		16.53-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     MT_27.3chr17:
15936335-15936335		TCintronicDe novo--Trost2022 G
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     Leuven2_64803513chr17:
15938257-15938257		TCexonicUnknownsynonymous SNVNM_001190440
NM_006311		c.A6648G
c.A6957G		p.G2216G
p.G2319G		16.112.0E-4Wang2020 T
NCOR1     SP0050506chr17:
15965142-15965142		CTexonicDe novosynonymous SNVNM_001190440
NM_006311		c.G5502A
c.G5454A		p.A1834A
p.A1818A		-1.0E-4Trost2022 G
NCOR1     AU4032305 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
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
NCOR1     ACGC_HEN0241.p1chr17:
15950299-15950299		CGexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G6336C
c.G6645C		p.K2112N
p.K2215N		22.28.24E-6Wang2020 T
NCOR1     M20719chr17:
16089979-16089979		CTexonicMaternalnonsynonymous SNVNM_001190440
NM_006311		c.G131A
c.G131A		p.R44H
p.R44H		15.871.649E-5Wang2016 T
NCOR1     ACGC_M17481chr17:
15950299-15950299		CGexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G6336C
c.G6645C		p.K2112N
p.K2215N		22.28.24E-6Wang2020 T
NCOR1     M12462chr17:
15983352-15983352		TCexonicMaternalnonsynonymous SNVNM_001190440
NM_006311		c.A3475G
c.A3427G		p.S1159G
p.S1143G		26.5-Wang2016 T
NCOR1     ACGC_HEN0088.p1chr17:
15950303-15950303		CTexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G6332A
c.G6641A		p.R2111H
p.R2214H		18.681.648E-5Wang2020 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     Leuven2_60681732chr17:
15961250-15961250		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C5830T
c.C6139T		p.R1944W
p.R2047W		23.58.255E-6Wang2020 T
NCOR1     5-5209-003chr17:
16028259-16028259		CAintronicDe novo--Trost2022 G
NCOR1     7-0444-003chr17:
16030550-16030550		CTintronicDe novo--Trost2022 G
NCOR1     MSSNG00197-003chr17:
16014728-16014728		CTintronicDe novo--Trost2022 G
NCOR1     7-0410-003chr17:
16017079-16017079		CGintronicDe novo--Trost2022 G
NCOR1     3-0419-000chr17:
15980136-15980136		AGintronicDe novo--Trost2022 G
NCOR1     REACH000144chr17:
16005759-16005759		GAintronicDe novo--Trost2022 G
NCOR1     SP0159378chr17:
15968934-15968934		TCexonicDe novononsynonymous SNVNM_001190440
NM_006311		c.A4864G
c.A4816G		p.M1622V
p.M1606V		12.528.238E-6Trost2022 G
NCOR1     SP0064301chr17:
15973433-15973435		TTATintronicDe novo-0.0018Trost2022 G
NCOR1     1-0673-003chr17:
16118185-16118185		TCintronicDe novo--Trost2022 G
Yuen2017 G
NCOR1     MSSNG00358-004chr17:
16086061-16086061		CTintronicDe novo--Trost2022 G
NCOR1     MSSNG00204-003chr17:
16100987-16100987		AGintronicDe novo--Trost2022 G
NCOR1     1-0147-003chr17:
16061237-16061237		TCTAAintronicDe novo--Trost2022 G
NCOR1     AU4099301chr17:
16022350-16022350		CTintronicDe novo--Trost2022 G
Yuen2017 G
NCOR1     MSSNG00356-004chr17:
16069260-16069260		GAintronicDe novo--Trost2022 G
NCOR1     1-1016-003Achr17:
16048915-16048915		CAintronicDe novo--Trost2022 G
NCOR1     5-0015-004chr17:
16061237-16061237		TCTAAintronicDe novo--Trost2022 G
NCOR1     5-5119-003chr17:
16030569-16030569		GAintronicDe novo--Trost2022 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--Trost2022 G
Yuen2017 G
NCOR1     1-1016-003Achr17:
16048912-16048912		AGintronicDe novo--Trost2022 G
NCOR1     M15142chr17:
15964871-15964871		GAexonicPaternalnonsynonymous SNVNM_006311c.C5725Tp.P1909S16.41-Wang2016 T
NCOR1     217-14143-2410chr17:
15968982-15968982		GAexonicInheritedstopgainNM_001190440
NM_006311		c.C4816T
c.C4768T		p.Q1606X
p.Q1590X		38.0-Stessman2017 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
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--Trost2022 G
Yuen2017 G
NCOR1     Codina-Sola2015:ASD_14chr17:
15943753-15943753		AGsplicingMaternalsplicing20.5-Codina-Sola2015 E
NCOR1     ACGC_HN0128.p1chr17:
15964747-15964747		CTexonicMaternalnonsynonymous SNVNM_006311c.G5849Ap.R1950H32.0-Wang2020 T
NCOR1     04C31683chr17:
15950390-15950390		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C6245T
c.C6554T		p.P2082L
p.P2185L		15.74-Stessman2017 T
NCOR1     Gecz2_28950chr17:
16062139-16062139		CGexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.G340C
c.G667C
c.G667C		p.V114L
p.V223L
p.V223L		17.12-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     Gecz1_24458chr17:
16062139-16062139		CGexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.G340C
c.G667C
c.G667C		p.V114L
p.V223L
p.V223L		17.12-Wang2020 T
NCOR1     Gecz2_34947chr17:
16062139-16062139		CGexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.G340C
c.G667C
c.G667C		p.V114L
p.V223L
p.V223L		17.12-Wang2020 T
NCOR1     SP0050475chr17:
15983976-15983976		CTexonicDe novosynonymous SNVNM_001190440
NM_006311		c.G3291A
c.G3243A		p.P1097P
p.P1081P		--Fu2022 E
Trost2022 G
Zhou2022 GE
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     AGRE_04C31683chr17:
15950390-15950390		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C6245T
c.C6554T		p.P2082L
p.P2185L		15.74-Wang2020 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     SSC08444chr17:
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-5Fu2022 E
Trost2022 G
NCOR1     SP0061067chr17:
16055275-16055275		TCexonicnonsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.A500G
c.A827G
c.A827G		p.H167R
p.H276R
p.H276R		10.57-Antaki2022 GE
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--Trost2022 G
Yuen2017 G
NCOR1     ACGC_HEN0359.p1chr17:
15967388-15967388		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C5263T
c.C5215T		p.R1755W
p.R1739W		27.58.248E-6Wang2020 T
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--Trost2022 G
Yuen2017 G
NCOR1     5-0004-003chr17:
15991253-15991253		CTintronicDe novo--Trost2022 G
Yuen2017 G
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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Technology
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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.
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