Variant Results

or

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

SP0157807

chr20:
46262746-46262746

G

A

intronic

De novo

-

Trost2022 G

NCOA3

3-0621-000A

chr20:
46247070-46247075

TTTAAG

T

intronic

De novo

-

Trost2022 G

NCOA3

2-1552-003

chr20:
46237041-46237043

CAA

C

intronic

De novo

-

Trost2022 G

NCOA3

1-0171-005

chr20:
46138434-46138436

TTG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCOA3

Wang2023:798

chr20:
46268411-46268411

T

C

exonic

De novo

nonsynonymous SNV

NM_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

AU2310301

chr20:
46224015-46224015

T

A

intronic

De novo

-

Trost2022 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

2-1644-003

chr20:
46205301-46205302

TG

AA

intronic

De novo

-

Trost2022 G

NCOA3

MSSNG00385-003

chr20:
46196067-46196067

G

C

intronic

De novo

-

Trost2022 G

NCOA3

7-0330-003

chr20:
46169437-46169437

G

C

intronic

De novo

-

Trost2022 G

NCOA3

5-0071-003

chr20:
46269624-46269624

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCOA3

1-1165-003

chr20:
46156460-46156460

C

G

intronic

De novo

-

Trost2022 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
Trost2022 G
Zhou2022 GE

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
Trost2022 G

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
Trost2022 G
Zhou2022 GE

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
Trost2022 G
Zhou2022 GE

NCOA3

4-0062-003

chr20:
46265041-46265042

GA

CT

exonic

De novo

nonframeshift substitution

NM_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

AU0039303

chr20:
46255992-46255992

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCOA3

AU4239301

chr20:
46182513-46182513

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

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

NCOA3

2-1266-003

chr20:
46165011-46165011

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NCOA3

2-1153-003

chr20:
46208257-46208257

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NCOA3

mAGRE4581

chr20:
46268444-46268457

ATTATAATACTTCT

A

exonic

Paternal

frameshift deletion

NM_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

mAGRE4580

chr20:
46268444-46268457

ATTATAATACTTCT

A

exonic

Paternal

frameshift deletion

NM_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

1-0412-003

chr20:
46248412-46248412

T

TTGCCATTCA

intronic

De novo

-

Yuen2017 G

NCOA3

SP0023707

chr20:
46281256-46281256

G

A

exonic

De novo

synonymous SNV

NM_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-4

Trost2022 G
Zhou2022 GE

NCOA3

4-0054-003

chr20:
46146463-46146463

G

C

intronic

De novo

-

Trost2022 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

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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