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Results for "NCOA1"

Variant Events: 18

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
NCOA1     08C76185chr2:
24914385-24914385
CTexonicDe novostopgainNM_003743
NM_147223
NM_147233
c.C568T
c.C568T
c.C568T
p.R190X
p.R190X
p.R190X
39.0-Satterstrom2020 E
NCOA1     12607.p1chr2:
24920563-24920563
CGexonicDe novononsynonymous SNVNM_003743
NM_147223
NM_147233
c.C845G
c.C845G
c.C845G
p.A282G
p.A282G
p.A282G
29.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
NCOA1     13849.p1chr2:
24928022-24928022
CTexonicDe novosynonymous SNVNM_003743
NM_147223
NM_147233
c.C1017T
c.C1017T
c.C1017T
p.S339S
p.S339S
p.S339S
-3.296E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NCOA1     14128.p1chr2:
24990986-24990986
AGexonicDe novosynonymous SNVNM_147223c.A4194Gp.T1398T--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
NCOA1     AU3846302chr2:
24846133-24846133
AGintronicDe novo--Yuen2017 G
NCOA1     SSC09383chr2:
24928022-24928022
CTexonicDe novosynonymous SNVNM_003743
NM_147223
NM_147233
c.C1017T
c.C1017T
c.C1017T
p.S339S
p.S339S
p.S339S
-3.296E-5Lim2017 E
NCOA1     2-1741-003chr2:
24947411-24947418
ATTTTTTTATTTTTTintronicDe novo--Yuen2017 G
NCOA1     SSC05163chr2:
24920563-24920563
CGexonicDe novononsynonymous SNVNM_003743
NM_147223
NM_147233
c.C845G
c.C845G
c.C845G
p.A282G
p.A282G
p.A282G
29.8-Lim2017 E
NCOA1     Bruno2021:VIchr2:
24964748-24964748
GAexonicDe novononsynonymous SNVNM_003743
NM_147223
NM_147233
c.G3399A
c.G3399A
c.G3399A
p.M1133I
p.M1133I
p.M1133I
12.77-Bruno2021 E
NCOA1     1-0777-003chr2:
24946686-24946686
TGintronicDe novo--Yuen2017 G
NCOA1     11456.p1chr2:
24993662-24993662
CTdownstreamDe novo--Turner2016 G
NCOA1     1-0141-003chr2:
24953206-24953206
AGintronicDe novo--Yuen2017 G
NCOA1     MR_997_Ichr2:
24964748-24964748
GAexonicDe novononsynonymous SNVNM_003743
NM_147223
NM_147233
c.G3399A
c.G3399A
c.G3399A
p.M1133I
p.M1133I
p.M1133I
12.77-Satterstrom2020 E
NCOA1     2-1267-003chr2:
24940431-24940431
CGintronicDe novo--Yuen2017 G
NCOA1     2-1431-003chr2:
24987513-24987513
AGintronicDe novo--Yuen2016 G
Yuen2017 G
NCOA1     AU4032307chr2:
24866681-24866681
CAintronicDe novo--Yuen2017 G
NCOA1     2-1154-003chr2:
24848751-24848751
TGintronicDe novo--Yuen2016 G
Yuen2017 G
NCOA1     7-0197-003chr2:
24943980-24943980
GAintronicDe novo--Yuen2017 G
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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