Variant Results

or

Results for "AGO1"

Variant Events: 21

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

AGO1

SP0050968

chr1:
36358737-36358737

C

G

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.C145G
c.C370G

p.R49G
p.R124G

12.55

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AGO1

AU030103

chr1:
36366283-36366283

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGO1

AU2495301

chr1:
36338425-36338425

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGO1

11740.p1

chr1:
36367118-36367118

C

T

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.C839T
c.C1064T

p.T280I
p.T355I

26.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

AGO1

Uddin2014:16

chr1:
36367118-36367118

C

T

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.C839T
c.C1064T

p.T280I
p.T355I

26.2

-

Uddin2014 E

AGO1

REACH000096

chr1:
36347393-36347393

G

GGCAT

intronic

De novo

-

Trost2022 G

AGO1

AU3806304

chr1:
36355372-36355372

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGO1

SP0116535

chr1:
36358335-36358335

A

C

intronic

De novo

-

Trost2022 G

AGO1

SSC03064

chr1:
36367118-36367118

C

T

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.C839T
c.C1064T

p.T280I
p.T355I

26.2

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

AGO1

SP0082959

chr1:
36358335-36358335

A

C

intronic

De novo

-

Trost2022 G

AGO1

Disecmas_081P

chr1:
36359295-36359298

CCTT

C

exonic

De novo

nonframeshift deletion

NM_001317123
NM_012199

c.309_311del
c.534_536del

p.103_104del
p.178_179del

-

Fu2022 E

AGO1

SP0055667

chr1:
36359295-36359298

CCTT

C

exonic

De novo

nonframeshift deletion

NM_001317123
NM_012199

c.309_311del
c.534_536del

p.103_104del
p.178_179del

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AGO1

AU2572301

chr1:
36359345-36359345

G

A

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.G358A
c.G583A

p.E120K
p.E195K

31.0

-

Trost2022 G
Zhou2022 GE

AGO1

DD15852

chr1:
36359331-36359331

T

C

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.T344C
c.T569C

p.L115P
p.L190P

20.6

-

O’Roak2014 T

AGO1

SP0050119

chr1:
36368013-36368013

G

T

intronic

De novo

-

Trost2022 G

AGO1

AU030104

chr1:
36366283-36366283

G

A

intronic

De novo

-

Yuen2017 G

AGO1

SP0117352

chr1:
36372630-36372630

A

G

exonic

nonsynonymous SNV

NM_001317123
NM_012199

c.A1267G
c.A1492G

p.S423G
p.S498G

19.92

-

Antaki2022 GE
Zhou2022 GE

AGO1

SP0140103

chr1:
36359746-36359746

G

A

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.G533A
c.G758A

p.R178H
p.R253H

19.83

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

AGO1

JASD_Fam0055

chr1:
36359358-36359358

G

T

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.G371T
c.G596T

p.G124V
p.G199V

23.1

-

Takata2018 E

AGO1

AU024004

chr1:
36340098-36340098

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AGO1

21773-34925

chr1:
36384789-36384789

C

T

exonic

Inherited

nonsynonymous SNV

NM_001317123
NM_012199

c.C2174T
c.C2399T

p.P725L
p.P800L

21.5

-

Callaghan2019 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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