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Results for "GGNBP2"

Variant Events: 10

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
GGNBP2     AU011903chr17:
34911173-34911173
CAintronicDe novo--Trost2022 G
Yuen2017 G
GGNBP2     4-0040-003chr17:
34938600-34938600
TGintronicDe novo--Trost2022 G
GGNBP2     JASD_Fam0061chr17:
34934444-34934444
CTexonicDe novostopgainNM_024835c.C673Tp.R225X38.0-Takata2018 E
GGNBP2     DEASD_0334_001chr17:
34943466-34943466
CTexonicDe novostopgainNM_024835c.C1681Tp.R561X40.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GGNBP2     SP0126288chr17:
34945865-34945865
CAUTR3De novo--Fu2022 E
Trost2022 G
GGNBP2     13777.p1chr17:
34910642-34910642
GAintronicDe novo-1.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
GGNBP2     1-0388-003chr17:
34944674-34944674
GAintronicDe novo--Yuen2017 G
GGNBP2     1-0998-003chr17:
34919872-34919872
CTintronicDe novo--Trost2022 G
Yuen2017 G
GGNBP2     SP0082954chr17:
34945826-34945826
GAexonicDe novosynonymous SNVNM_024835c.G2079Ap.T693T-7.483E-5Trost2022 G
Zhou2022 GE
GGNBP2     SP0151550chr17:
34945670-34945670
CCTexonicDe novoframeshift insertionNM_024835c.1924dupTp.I641fs--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
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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