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Results for "GNS"

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
GNS     7-0222-003chr12:
65151402-65151407
ACTCTCACTCintronicDe novo--Yuen2017 G
GNS     AU3761302chr12:
65106236-65106236
AGdownstreamDe novo--Yuen2017 G
GNS     08C74421chr12:
65113956-65113956
CTexonicDe novononsynonymous SNVNM_002076c.G1426Ap.V476I25.2-Satterstrom2020 E
GNS     14233.p1chr12:
65137026-65137026
GAexonicMosaic, De novosynonymous SNVNM_002076c.C687Tp.I229I8.0138.239E-6Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
GNS     12826.p1chr12:
65122784-65122784
GAexonicDe novosynonymous SNVNM_002076c.C1152Tp.Y384Y-2.474E-5Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
GNS     13444.p1chr12:
65152976-65152976
TCexonicDe novosynonymous SNVNM_002076c.A81Gp.L27L--Satterstrom2020 E
GNS     AU076508chr12:
65163799-65163799
CTintergenicDe novo--Yuen2017 G
GNS     AU017703chr12:
65168892-65168892
TGintergenicDe novo--Yuen2017 G
GNS     AU3398301chr12:
65150820-65150820
GCintronicDe 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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