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Results for "AGK"

Variant Events: 10

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
AGK     330-04-101166chr7:
141315266-141315266
CAintronicDe novo-1.0E-4Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
AGK     13843_p1chr7:
141321569-141321569
GAexonicDe novononsynonymous SNVNM_018238c.G556Ap.E186K20.4-Fu2022 E
AGK     13843.p1chr7:
141321569-141321569
GAexonicDe novononsynonymous SNVNM_018238c.G556Ap.E186K20.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
AGK     AU2299301chr7:
141286266-141286266
ATintronicDe novo--Trost2022 G
AGK     mAGRE4046chr7:
141341709-141341709
GAsplicingPaternalsplicing19.54-Cirnigliaro2023 G
AGK     mAGRE4873chr7:
141341053-141341053
GAexonicMaternalstopgainNM_018238c.G732Ap.W244X37.0-Cirnigliaro2023 G
AGK     mAGRE4945chr7:
141255368-141255368
GGTAACsplicingMaternalsplicing--Cirnigliaro2023 G
AGK     MT_31.3chr7:
141257751-141257751
TCintronicDe novo--Trost2022 G
AGK     7-0273-003chr7:
141308050-141308050
CAintronicDe novo--Trost2022 G
Yuen2017 G
AGK     SP0030009chr7:
141310950-141310950
GAintronicDe novo--Fu2022 E
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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