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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     AU3779302chr1:
36531054-36531054
CAintergenicDe novo--Trost2022 G
Yuen2017 G
AGO3     AU031204chr1:
36547534-36547534
TCintergenicDe novo--Yuen2017 G
AGO3     SP0011688chr1:
36521417-36521417
ATUTR3De novo--Fu2022 E
AGO3     2-1164-003chr1:
36439816-36439816
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
AGO3     13133.p1chr1:
36448314-36448314
GTintronicDe novo--Wilfert2021 G
AGO3     AU2569301chr1:
36505426-36505426
CAexonicMaternalstopgainNM_177422
NM_024852
c.C1176A
c.C1878A
p.Y392X
p.Y626X
42.0-Cirnigliaro2023 G
AGO3     1-0252-003chr1:
36417602-36417602
ATintronicDe novo--Yuen2017 G
AGO3     AGRE_02C12234chr1:
36474520-36474520
GAexonicUnknownnonsynonymous SNVNM_177422
NM_024852
c.G202A
c.G904A
p.G68S
p.G302S
33.04.943E-5Wang2020 T
AGO3     AU2410302chr1:
36475161-36475161
CAexonicDe novo, Unknownnonsynonymous SNVNM_177422
NM_024852
c.C413A
c.C1115A
p.S138Y
p.S372Y
28.5-Cirnigliaro2023 G
Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE
AGO3     2-1192-003chr1:
36471758-36471758
CCTintronicDe novo--Trost2022 G
AGO3     MSSNG00346-003chr1:
36431588-36431588
GAintronicDe novo--Trost2022 G
AGO3     AU4079301chr1:
36460164-36460164
CTintronicDe novo--Trost2022 G
Yuen2017 G
AGO3     AU2463301chr1:
36480699-36480699
GAintronicDe novo--Trost2022 G
AGO3     14282.p1chr1:
36396972-36396972
CTUTR5De novo--Krumm2015 E
AGO3     AU004403chr1:
36480556-36480556
ACintronicDe novo--Trost2022 G
AGO3     MSSNG00402-003chr1:
36403549-36403549
AGintronicDe novo--Trost2022 G
AGO3     NDAR_INVRN099AG1_wes1chr1:
36474610-36474610
GAexonicDe novo, Unknownnonsynonymous SNVNM_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     1-1044-003chr1:
36430863-36430863
CTintronicDe novo--Trost2022 G
AGO3     5-5175-003chr1:
36425014-36425014
AGintronicDe novo--Trost2022 G
AGO3     MSSNG00231-003chr1:
36536138-36536138
CGintergenicDe novo--Trost2022 G
AGO3     SP0211301chr1:
36474338-36474338
CTexonicnonsynonymous SNVNM_177422
NM_024852
c.C139T
c.C841T
p.R47C
p.R281C
23.6-Zhou2022 GE
AGO3     B5X9C-01chr1:
36533033-36533033
GAintergenicDe novo--Trost2022 G
AGO3     SSC07701chr1:
36448314-36448314
GTintronic--Antaki2022 GE
AGO3     NDAR_INVGJ169ZP5_wes1chr1:
36505375-36505375
ATintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
AGO3     7-0453-003chr1:
36498893-36498893
GAintronicDe novo--Trost2022 G
AGO3     7-0365-004chr1:
36497113-36497113
TGintronicDe novo--Trost2022 G
AGO3     1-0885-003chr1:
36444188-36444188
CAintronicDe novo--Trost2022 G
Yuen2017 G
AGO3     SP0234797chr1:
36411298-36411298
GCexonicDe novononsynonymous SNVNM_024852c.G25Cp.A9P12.03-Trost2022 G
Zhou2022 GE
AGO3     7-0454-003chr1:
36518951-36518951
GAintronicDe novo--Trost2022 G
AGO3     SP0226677chr1:
36505605-36505605
ACintronicDe novo--Trost2022 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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