Variant Results

or

Results for "AGO3"

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

AGO3

AU3779302

chr1:
36531054-36531054

C

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

AGO3

AU031204

chr1:
36547534-36547534

T

C

intergenic

De novo

-

Yuen2017 G

AGO3

SP0011688

chr1:
36521417-36521417

A

T

UTR3

De novo

-

Fu2022 E

AGO3

2-1164-003

chr1:
36439816-36439816

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AGO3

13133.p1

chr1:
36448314-36448314

G

T

intronic

De novo

-

Wilfert2021 G

AGO3

AU2569301

chr1:
36505426-36505426

C

A

exonic

Maternal

stopgain

NM_177422
NM_024852

c.C1176A
c.C1878A

p.Y392X
p.Y626X

42.0

-

Cirnigliaro2023 G

AGO3

1-0252-003

chr1:
36417602-36417602

A

T

intronic

De novo

-

Yuen2017 G

AGO3

AGRE_02C12234

chr1:
36474520-36474520

G

A

exonic

Unknown

nonsynonymous SNV

NM_177422
NM_024852

c.G202A
c.G904A

p.G68S
p.G302S

33.0

4.943E-5

Wang2020 T

AGO3

AU2410302

chr1:
36475161-36475161

C

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_177422
NM_024852

c.C413A
c.C1115A

p.S138Y
p.S372Y

28.5

-

Cirnigliaro2023 G
Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE

AGO3

2-1192-003

chr1:
36471758-36471758

C

CT

intronic

De novo

-

Trost2022 G

AGO3

MSSNG00346-003

chr1:
36431588-36431588

G

A

intronic

De novo

-

Trost2022 G

AGO3

AU4079301

chr1:
36460164-36460164

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGO3

AU2463301

chr1:
36480699-36480699

G

A

intronic

De novo

-

Trost2022 G

AGO3

14282.p1

chr1:
36396972-36396972

C

T

UTR5

De novo

-

Krumm2015 E

AGO3

AU004403

chr1:
36480556-36480556

A

C

intronic

De novo

-

Trost2022 G

AGO3

MSSNG00402-003

chr1:
36403549-36403549

A

G

intronic

De novo

-

Trost2022 G

AGO3

NDAR_INVRN099AG1_wes1

chr1:
36474610-36474610

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_177422
NM_024852

c.G292A
c.G994A

p.G98R
p.G332R

34.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

AGO3

1-1044-003

chr1:
36430863-36430863

C

T

intronic

De novo

-

Trost2022 G

AGO3

5-5175-003

chr1:
36425014-36425014

A

G

intronic

De novo

-

Trost2022 G

AGO3

MSSNG00231-003

chr1:
36536138-36536138

C

G

intergenic

De novo

-

Trost2022 G

AGO3

SP0211301

chr1:
36474338-36474338

C

T

exonic

nonsynonymous SNV

NM_177422
NM_024852

c.C139T
c.C841T

p.R47C
p.R281C

23.6

-

Zhou2022 GE

AGO3

B5X9C-01

chr1:
36533033-36533033

G

A

intergenic

De novo

-

Trost2022 G

AGO3

SSC07701

chr1:
36448314-36448314

G

T

intronic

-

Antaki2022 GE

AGO3

NDAR_INVGJ169ZP5_wes1

chr1:
36505375-36505375

A

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

AGO3

7-0453-003

chr1:
36498893-36498893

G

A

intronic

De novo

-

Trost2022 G

AGO3

7-0365-004

chr1:
36497113-36497113

T

G

intronic

De novo

-

Trost2022 G

AGO3

1-0885-003

chr1:
36444188-36444188

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGO3

SP0234797

chr1:
36411298-36411298

G

C

exonic

De novo

nonsynonymous SNV

NM_024852

c.G25C

p.A9P

12.03

-

Trost2022 G
Zhou2022 GE

AGO3

7-0454-003

chr1:
36518951-36518951

G

A

intronic

De novo

-

Trost2022 G

AGO3

SP0226677

chr1:
36505605-36505605

A

C

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
	More