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Results for "AGO1"

Variant Events: 11

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     DD15852chr1:
36359331-36359331
TCexonicDe novononsynonymous SNVNM_001317123
NM_012199
c.T344C
c.T569C
p.L115P
p.L190P
20.6-O’Roak2014 T
AGO1     AU030103chr1:
36366283-36366283
GAintronicDe novo--Yuen2017 G
AGO1     AU2495301chr1:
36338425-36338425
CTintronicDe novo--Yuen2017 G
AGO1     11740.p1chr1:
36367118-36367118
CTexonicDe novononsynonymous SNVNM_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
AGO1     AU030104chr1:
36366283-36366283
GAintronicDe novo--Yuen2017 G
AGO1     Uddin2014:16chr1:
36367118-36367118
CTexonicDe novononsynonymous SNVNM_001317123
NM_012199
c.C839T
c.C1064T
p.T280I
p.T355I
26.2-Uddin2014 E
AGO1     AU3806304chr1:
36355372-36355372
AGintronicDe novo--Yuen2017 G
AGO1     JASD_Fam0055chr1:
36359358-36359358
GTexonicDe novononsynonymous SNVNM_001317123
NM_012199
c.G371T
c.G596T
p.G124V
p.G199V
23.1-Takata2018 E
AGO1     AU024004chr1:
36340098-36340098
CAintronicDe novo--Yuen2017 G
AGO1     SSC03064chr1:
36367118-36367118
CTexonicDe novononsynonymous SNVNM_001317123
NM_012199
c.C839T
c.C1064T
p.T280I
p.T355I
26.2-Lim2017 E
AGO1     21773-34925chr1:
36384789-36384789
CTexonicInheritednonsynonymous SNVNM_001317123
NM_012199
c.C2174T
c.C2399T
p.P725L
p.P800L
21.5-Callaghan2019 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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