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Results for "GDPD4"

Variant Events: 8

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
GDPD4     A7chr11:
76934573-76934573
GAintronicDe novo--Wu2018 G
GDPD4     AU2140305chr11:
77026197-77026197
TGintergenicDe novo--Yuen2017 G
GDPD4     1-0417-003chr11:
76961859-76961859
CTintronicDe novo--Yuen2016 G
Yuen2017 G
GDPD4     11252.p1chr11:
76991735-76991735
CGintronicDe novo--Turner2016 G
GDPD4     12952.p1 Complex Event; expand row to view variants  De novo-7.0E-4Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
GDPD4     A14chr11:
76954788-76954788
TTTexonicDe novoframeshift insertionNM_182833c.1192dupAp.I398fs--Wu2018 G
GDPD4     iHART2714chr11:
76928353-76928353
TTGAGTAexonicPaternalframeshift insertionNM_182833c.1531_1532insTACTCp.Q511fs-1.0E-4Ruzzo2019 G
GDPD4     AU3764302chr11:
77029105-77029105
CAintergenicDe 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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