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Results for "GNAT3"

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
GNAT3     iHART1547chr7:
80117849-80117849
ACsplicingMaternalsplicing24.32.0E-4Ruzzo2019 G
GNAT3     1-0699-003chr7:
80122684-80122684
CAintronicDe novo--Yuen2017 G
GNAT3     AU4067301chr7:
80090813-80090813
GAintronicDe novo--Yuen2017 G
GNAT3     1-0107-003chr7:
80126279-80126279
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GNAT3     1-0640-003chr7:
80128507-80128507
ACintronicDe novo--Yuen2017 G
GNAT3     1-0757-003chr7:
80203314-80203314
ACintergenicDe novo--Yuen2017 G
GNAT3     11456.p1chr7:
80091017-80091017
ATintronicDe novo--Turner2016 G
GNAT3     13393.p1chr7:
80092512-80092512
GAintronicDe novo--Turner2016 G
GNAT3     1-0998-003chr7:
80179059-80179059
CTintergenicDe novo--Yuen2017 G
GNAT3     11456.p1chr7:
80221996-80221996
GAintergenicDe novo--Turner2016 G
GNAT3     2-1152-003chr7:
80090893-80090893
TCintronicDe novo--Yuen2017 G
GNAT3     AU4315302chr7:
80148512-80148512
CTintergenicDe 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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