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Results for "AGPS"

Variant Events: 7

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-4Yuen2017 G
AGPS     AU4028302chr2:
178386381-178386381
AGintronicDe novo--Yuen2017 G
AGPS     SP0018758chr2:
178370301-178370301
CTexonicDe novostopgainNM_003659c.C1543Tp.R515X38.0-Feliciano2019 E
AGPS     2-1261-004chr2:
178347978-178347978
CTintronicDe novo--Yuen2017 G
AGPS     3-0396-000chr2:
178388379-178388379
CTintronicDe novo--Yuen2016 G
AGPS     5-0064-003chr2:
178401194-178401194
TAintronicDe 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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