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Results for "AGPS"

Variant Events: 20

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
AGPS     1-0158-003chr2:
178318558-178318558
AGintronicDe novo--Yuen2017 G
AGPS     1-0756-003chr2:
178326775-178326779
AATTGAintronicDe novo-2.0E-4Trost2022 G
Yuen2017 G
AGPS     1-0142-005chr2:
178318595-178318598
AGTATTTTintronicDe novo--Trost2022 G
AGPS     2-0242-004chr2:
178318595-178318598
AGTATTTTintronicDe novo--Trost2022 G
AGPS     SP0018758chr2:
178370301-178370301
CTexonicDe novostopgainNM_003659c.C1543Tp.R515X38.0-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
AGPS     5-5007-003chr2:
178303307-178303307
ATintronicDe novo--Trost2022 G
AGPS     AU2207301chr2:
178314213-178314213
CTintronicDe novo--Trost2022 G
AGPS     3-0783-000chr2:
178278871-178278871
AGintronicDe novo--Trost2022 G
AGPS     2-1261-004chr2:
178347978-178347978
CTintronicDe novo--Trost2022 G
Yuen2017 G
AGPS     1-1109-003chr2:
178296177-178296177
GAintronicDe novo--Trost2022 G
AGPS     MSSNG00416-003chr2:
178274950-178274950
CTintronicDe novo--Trost2022 G
AGPS     3-0396-000chr2:
178388379-178388379
CTintronicDe novo--Trost2022 G
Yuen2016 G
AGPS     SP0069614chr2:
178357852-178357852
CCTintronicDe novo-0.0064Trost2022 G
AGPS     5-5152-003chr2:
178379867-178379867
GCintronicDe novo--Trost2022 G
AGPS     3-0835-000chr2:
178348506-178348506
TCintronicDe novo--Trost2022 G
AGPS     MSSNG00354-004chr2:
178349567-178349567
CTintronicDe novo--Trost2022 G
AGPS     5-0064-003chr2:
178401194-178401194
TAintronicDe novo--Trost2022 G
Yuen2017 G
AGPS     1-0142-005chr2:
178318675-178318679
AAAGTGAGTAintronicDe novo--Trost2022 G
AGPS     1-0142-005chr2:
178318696-178318698
TGACCCintronicDe novo--Trost2022 G
AGPS     AU4028302chr2:
178386381-178386381
AGintronicDe novo--Trost2022 G
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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