Variant Results

or

Results for "NCOA1"

Variant Events: 30

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

MSSNG00012-004A

chr2:
24922905-24922905

G

A

intronic

De novo

-

Trost2022 G

NCOA1

7-0381-003

chr2:
24909314-24909316

CAT

C

intronic

De novo

-

Trost2022 G

NCOA1

12607.p1

chr2:
24920563-24920563

C

G

exonic

De novo

nonsynonymous SNV

NM_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
Zhou2022 GE

NCOA1

13849.p1

chr2:
24928022-24928022

C

T

exonic

De novo

synonymous SNV

NM_003743
NM_147223
NM_147233

c.C1017T
c.C1017T
c.C1017T

p.S339S
p.S339S
p.S339S

-

3.296E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

NCOA1

14128.p1

chr2:
24990986-24990986

A

G

exonic

De novo

synonymous SNV

NM_147223

c.A4194G

p.T1398T

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

NCOA1

AU3846302

chr2:
24846133-24846133

A

G

intronic

De novo

-

Yuen2017 G

NCOA1

SP0004698

chr2:
24929827-24929827

A

T

exonic

De novo

synonymous SNV

NM_003743
NM_147223
NM_147233

c.A1488T
c.A1488T
c.A1488T

p.G496G
p.G496G
p.G496G

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NCOA1

SSC09383

chr2:
24928022-24928022

C

T

exonic

De novo

synonymous SNV

NM_003743
NM_147223
NM_147233

c.C1017T
c.C1017T
c.C1017T

p.S339S
p.S339S
p.S339S

-

3.296E-5

Fu2022 E
Lim2017 E
Trost2022 G

NCOA1

SSC05163

chr2:
24920563-24920563

C

G

exonic

De novo

nonsynonymous SNV

NM_003743
NM_147223
NM_147233

c.C845G
c.C845G
c.C845G

p.A282G
p.A282G
p.A282G

29.8

-

Fu2022 E
Lim2017 E
Trost2022 G

NCOA1

Bruno2021:VI

chr2:
24964748-24964748

G

A

exonic

De novo

nonsynonymous SNV

NM_003743
NM_147223
NM_147233

c.G3399A
c.G3399A
c.G3399A

p.M1133I
p.M1133I
p.M1133I

12.77

-

Bruno2021 E

NCOA1

11456.p1

chr2:
24993662-24993662

C

T

downstream

De novo

-

Turner2016 G

NCOA1

1-0141-003

chr2:
24953206-24953206

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCOA1

MR_997_I

chr2:
24964748-24964748

G

A

exonic

De novo

nonsynonymous SNV

NM_003743
NM_147223
NM_147233

c.G3399A
c.G3399A
c.G3399A

p.M1133I
p.M1133I
p.M1133I

12.77

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NCOA1

2-1267-003

chr2:
24940431-24940431

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCOA1

2-1431-003

chr2:
24987513-24987513

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NCOA1

AU4032307

chr2:
24866681-24866681

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCOA1

2-1154-003

chr2:
24848751-24848751

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NCOA1

7-0197-003

chr2:
24943980-24943980

G

A

intronic

De novo

-

Yuen2017 G

NCOA1

14128_p1

chr2:
24990986-24990986

A

G

exonic

De novo

synonymous SNV

NM_147223

c.A4194G

p.T1398T

-

Fu2022 E

NCOA1

08C76185

chr2:
24914385-24914385

C

T

exonic

De novo

stopgain

NM_003743
NM_147223
NM_147233

c.C568T
c.C568T
c.C568T

p.R190X
p.R190X
p.R190X

39.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NCOA1

2-1741-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

NCOA1

1-0777-003

chr2:
24946686-24946686

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCOA1

3-0533-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

NCOA1

1-0603-003

chr2:
24865638-24865638

A

G

intronic

De novo

-

Trost2022 G

NCOA1

1-1083-003

chr2:
24906930-24906930

A

G

intronic

De novo

-

Trost2022 G

NCOA1

1-1086-003

chr2:
24900289-24900289

T

G

intronic

De novo

-

Trost2022 G

NCOA1

4-0077-003

chr2:
24824970-24824972

GAA

AAT

intronic

De novo

-

Trost2022 G

NCOA1

REACH000258

chr2:
24818707-24818707

G

A

intronic

De novo

-

Trost2022 G

NCOA1

7-0202-003

chr2:
24833828-24833829

AC

TT

intronic

De novo

-

Trost2022 G

NCOA1

SJD_8.4

chr2:
24833143-24833143

C

A

intronic

De novo

-

Trost2022 G

Source Variant Information

, -

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	View
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