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Results for "GCN1"

Variant Events: 9

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
GCN1     AU4365302chr12:
120606492-120606492
CAintronicDe novo--Yuen2017 G
GCN1     SAGA-70 Complex Event; expand row to view variants  splicing12.89-Doan2019 E
Doan2019 E
GCN1     11089.p1chr12:
120618202-120618202
AGintronicDe novo--Turner2016 G
GCN1     P1194chr12:
120591701-120591701
CTexonicDe novosynonymous SNVNM_006836c.G3714Ap.A1238A-2.613E-5Hashimoto2016 E
GCN1     11089.p1chr12:
120618209-120618209
AGintronicDe novo--Turner2016 G
GCN1     G01-GEA-105-HIchr12:
120612957-120612957
TAintronicDe novo-3.61E-5Satterstrom2020 E
GCN1     iHART2111chr12:
120615337-120615337
GAexonicPaternalstopgainNM_006836c.C751Tp.R251X37.0-Ruzzo2019 G
GCN1     12467.p1chr12:
120575778-120575778
CTexonicDe novononsynonymous SNVNM_006836c.G6320Ap.R2107H21.74.0E-4Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
GCN1     AU3636302chr12:
120625499-120625499
GAintronicDe 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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