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Results for "AGO3"

Variant Events: 12

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     AU2410302chr1:
36475161-36475161
CAexonicDe novononsynonymous SNVNM_177422
NM_024852
c.C413A
c.C1115A
p.S138Y
p.S372Y
28.5-Wang2020 T
Yuen2017 G
AGO3     AU3779302chr1:
36531054-36531054
CAintergenicDe novo--Yuen2017 G
AGO3     2-1164-003chr1:
36439816-36439816
CTintronicDe novo--Yuen2016 G
Yuen2017 G
AGO3     AU4079301chr1:
36460164-36460164
CTintronicDe novo--Yuen2017 G
AGO3     14282.p1chr1:
36396972-36396972
CTUTR5De novo--Krumm2015 E
AGO3     NDAR_INVRN099AG1_wes1chr1:
36474610-36474610
GAexonicDe novononsynonymous SNVNM_177422
NM_024852
c.G292A
c.G994A
p.G98R
p.G332R
34.0-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
AGO3     02C12234chr1:
36474520-36474520
GAexonicUnknownnonsynonymous SNVNM_177422
NM_024852
c.G202A
c.G904A
p.G68S
p.G302S
33.04.943E-5Wang2020 T
Wang2020 T
AGO3     AU031204chr1:
36547534-36547534
TCintergenicDe novo--Yuen2017 G
AGO3     1-0252-003chr1:
36417602-36417602
ATintronicDe novo--Yuen2017 G
AGO3     13133.p1chr1:
36448314-36448314
GTintronicDe novo--Wilfert2021 G
AGO3     NDAR_INVGJ169ZP5_wes1chr1:
36505375-36505375
ATintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
AGO3     1-0885-003chr1:
36444188-36444188
CAintronicDe novo--Yuen2017 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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