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Results for "NCOA3"
Variant Events: 15
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
1-0171-005
chr20:
46138434-46138436
TTG
T
intronic
De novo
-
-
Yuen2017
G
NCOA3
2-1266-003
chr20:
46165011-46165011
C
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
NCOA3
PN400556
chr20:
46256365-46256365
G
A
exonic
Unknown
nonsynonymous SNV
NM_001174087
NM_001174088
NM_006534
NM_181659
c.G593A
c.G593A
c.G593A
c.G593A
p.R198H
p.R198H
p.R198H
p.R198H
32.0
5.78E-5
Leblond2019
E
NCOA3
2-1153-003
chr20:
46208257-46208257
C
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
NCOA3
5-0071-003
chr20:
46269624-46269624
T
C
intronic
De novo
-
-
Yuen2017
G
NCOA3
SP0110433
chr20:
46279919-46279919
C
T
exonic
De novo
nonsynonymous SNV
NM_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
NCOA3
SP0040514
chr20:
46252730-46252730
T
TCA
exonic
De novo
frameshift insertion
NM_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_1093
chr20:
46282139-46282139
G
T
intronic
De novo
-
-
Satterstrom2020
E
NCOA3
SP0148553
chr20:
46252760-46252760
T
C
exonic
De novo
synonymous SNV
NM_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
NCOA3
SP0033846
chr20:
46265292-46265292
T
C
exonic
De novo
nonsynonymous SNV
NM_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
NCOA3
AU0039303
chr20:
46255992-46255992
T
C
intronic
De novo
-
-
Yuen2017
G
NCOA3
1-0412-003
chr20:
46248412-46248412
T
TTGCCATTCA
intronic
De novo
-
-
Yuen2017
G
NCOA3
AU4239301
chr20:
46182513-46182513
G
T
intronic
De novo
-
-
Yuen2017
G
NCOA3
PN400505
chr20:
46256365-46256365
G
A
exonic
Unknown
nonsynonymous SNV
NM_001174087
NM_001174088
NM_006534
NM_181659
c.G593A
c.G593A
c.G593A
c.G593A
p.R198H
p.R198H
p.R198H
p.R198H
32.0
5.78E-5
Leblond2019
E
NCOA3
PN400579
chr20:
46256365-46256365
G
A
exonic
Unknown
nonsynonymous SNV
NM_001174087
NM_001174088
NM_006534
NM_181659
c.G593A
c.G593A
c.G593A
c.G593A
p.R198H
p.R198H
p.R198H
p.R198H
32.0
5.78E-5
Leblond2019
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 notes
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