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Results for "NCOA3"

Variant Events: 29

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
NCOA3     SP0157807chr20:
46262746-46262746
GAintronicDe novo--Trost2022 G
NCOA3     3-0621-000Achr20:
46247070-46247075
TTTAAGTintronicDe novo--Trost2022 G
NCOA3     2-1552-003chr20:
46237041-46237043
CAACintronicDe novo--Trost2022 G
NCOA3     1-0171-005chr20:
46138434-46138436
TTGTintronicDe novo--Trost2022 G
Yuen2017 G
NCOA3     Wang2023:798chr20:
46268411-46268411
TCexonicDe novononsynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.T2798C
c.T2783C
c.T2798C
c.T2798C
p.M933T
p.M928T
p.M933T
p.M933T
2.556-Wang2023 E
NCOA3     AU2310301chr20:
46224015-46224015
TAintronicDe novo--Trost2022 G
NCOA3     PN400556chr20:
46256365-46256365
GAexonicUnknownnonsynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.G593A
c.G593A
c.G593A
c.G593A
p.R198H
p.R198H
p.R198H
p.R198H
32.05.78E-5Leblond2019 E
NCOA3     2-1644-003chr20:
46205301-46205302
TGAAintronicDe novo--Trost2022 G
NCOA3     MSSNG00385-003chr20:
46196067-46196067
GCintronicDe novo--Trost2022 G
NCOA3     7-0330-003chr20:
46169437-46169437
GCintronicDe novo--Trost2022 G
NCOA3     5-0071-003chr20:
46269624-46269624
TCintronicDe novo--Trost2022 G
Yuen2017 G
NCOA3     1-1165-003chr20:
46156460-46156460
CGintronicDe novo--Trost2022 G
NCOA3     SP0110433chr20:
46279919-46279919
CTexonicDe novononsynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.C3842T
c.C3818T
c.C3833T
c.C3845T
p.P1281L
p.P1273L
p.P1278L
p.P1282L
10.07-Fu2022 E
Trost2022 G
Zhou2022 GE
NCOA3     SP0040514chr20:
46252730-46252730
TTCAexonicDe novoframeshift insertionNM_001174087
NM_001174088
NM_006534
NM_181659
c.159_160insCA
c.159_160insCA
c.159_160insCA
c.159_160insCA
p.S53fs
p.S53fs
p.S53fs
p.S53fs
--Fu2022 E
NCOA3     ASDFI_1093chr20:
46282139-46282139
GTintronicDe novo--Satterstrom2020 E
Trost2022 G
NCOA3     SP0148553chr20:
46252760-46252760
TCexonicDe novosynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.T189C
c.T189C
c.T189C
c.T189C
p.N63N
p.N63N
p.N63N
p.N63N
--Fu2022 E
Trost2022 G
Zhou2022 GE
NCOA3     SP0033846chr20:
46265292-46265292
TCexonicDe novononsynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.T2162C
c.T2192C
c.T2162C
c.T2162C
p.V721A
p.V731A
p.V721A
p.V721A
0.236-Fu2022 E
Trost2022 G
Zhou2022 GE
NCOA3     4-0062-003chr20:
46265041-46265042
GACTexonicDe novononframeshift substitutionNM_001174087
NM_001174088
NM_006534
NM_181659
c.1911_1912CT
c.1941_1942CT
c.1911_1912CT
c.1911_1912CT
N/A
N/A
N/A
N/A
--Trost2022 G
NCOA3     AU0039303chr20:
46255992-46255992
TCintronicDe novo--Trost2022 G
Yuen2017 G
NCOA3     AU4239301chr20:
46182513-46182513
GTintronicDe novo--Trost2022 G
Yuen2017 G
NCOA3     PN400579chr20:
46256365-46256365
GAexonicUnknownnonsynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.G593A
c.G593A
c.G593A
c.G593A
p.R198H
p.R198H
p.R198H
p.R198H
32.05.78E-5Leblond2019 E
NCOA3     2-1266-003chr20:
46165011-46165011
CTintronicDe novo--Yuen2016 G
Yuen2017 G
NCOA3     2-1153-003chr20:
46208257-46208257
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NCOA3     mAGRE4581chr20:
46268444-46268457
ATTATAATACTTCTAexonicPaternalframeshift deletionNM_001174087
NM_001174088
NM_006534
NM_181659
c.2832_2844del
c.2817_2829del
c.2832_2844del
c.2832_2844del
p.D944fs
p.D939fs
p.D944fs
p.D944fs
--Cirnigliaro2023 G
NCOA3     mAGRE4580chr20:
46268444-46268457
ATTATAATACTTCTAexonicPaternalframeshift deletionNM_001174087
NM_001174088
NM_006534
NM_181659
c.2832_2844del
c.2817_2829del
c.2832_2844del
c.2832_2844del
p.D944fs
p.D939fs
p.D944fs
p.D944fs
--Cirnigliaro2023 G
NCOA3     1-0412-003chr20:
46248412-46248412
TTTGCCATTCAintronicDe novo--Yuen2017 G
NCOA3     SP0023707chr20:
46281256-46281256
GAexonicDe novosynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.G4050A
c.G4026A
c.G4041A
c.G4053A
p.P1350P
p.P1342P
p.P1347P
p.P1351P
-3.0E-4Trost2022 G
Zhou2022 GE
NCOA3     4-0054-003chr20:
46146463-46146463
GCintronicDe novo--Trost2022 G
NCOA3     PN400505chr20:
46256365-46256365
GAexonicUnknownnonsynonymous SNVNM_001174087
NM_001174088
NM_006534
NM_181659
c.G593A
c.G593A
c.G593A
c.G593A
p.R198H
p.R198H
p.R198H
p.R198H
32.05.78E-5Leblond2019 E
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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