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Results for "RGPD4"

Variant Events: 12

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
RGPD4     1-0627-005chr2:
108491451-108491451
CTintronicDe novo--Yuen2017 G
RGPD4     5-0147-003chr2:
108474980-108474980
CTintronicDe novo--Yuen2017 G
RGPD4     1-0455-004chr2:
108578176-108578176
TCintergenicDe novo--Yuen2017 G
RGPD4     2-1386-003chr2:
108570589-108570589
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
RGPD4     Bruno2021:Vchr2:
108455329-108455329
GTexonicDe novononsynonymous SNVNM_182588c.G314Tp.C105F7.5390.0083Bruno2021 E
RGPD4     SP0020685chr2:
108443502-108443502
CTexonicDe novosynonymous SNVNM_182588c.C33Tp.Y11Y-9.0E-4Feliciano2019 E
RGPD4     5-0015-003chr2:
108595838-108595838
GAintergenicDe novo--Yuen2017 G
RGPD4     AU011604chr2:
108595980-108595980
GAintergenicDe novo--Yuen2017 G
RGPD4     2-1522-003chr2:
108546755-108546755
CTintergenicDe novo--Yuen2017 G
RGPD4     AU049304chr2:
108569275-108569275
TCintergenicDe novo--Yuen2017 G
RGPD4     13646.p1chr2:
108499346-108499348
TCTTintronicDe novo--Iossifov2012 E
RGPD4     2-1180-003chr2:
108522012-108522012
TCintergenicDe novo--Yuen2016 G
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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