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Results for "GLYCTK"

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
GLYCTK     2-1228-003chr3:
52346923-52346923
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
GLYCTK     12158.p1chr3:
52326978-52326978
GTexonicDe novononsynonymous SNVNM_145262c.G1408Tp.A470S12.18-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
GLYCTK     SP0004721chr3:
52325056-52325056
GAexonicDe novononsynonymous SNVNM_001144951
NM_145262
c.G458A
c.G458A
p.R153Q
p.R153Q
9.5822.485E-5Feliciano2019 E
GLYCTK     iHART2816chr3:
52326275-52326275
GAsplicingMaternalsplicing12.33-Ruzzo2019 G
GLYCTK     AU2427303chr3:
52325767-52325767
GAexonicDe novosynonymous SNVNM_145262c.G534Ap.G178G--Yuen2017 G
GLYCTK     11115.p1chr3:
52336130-52336130
GCintergenicDe novo--Werling2018 G
GLYCTK     XA214chr3:
52327005-52327005
GAexonicDe novononsynonymous SNVNM_145262c.G1435Ap.D479N27.8-Satterstrom2020 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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