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Results for "ARFGEF3"

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
ARFGEF3     AU4029301chr6:
138598361-138598361
AGintronicDe novo--Yuen2017 G
ARFGEF3     2-0210-005chr6:
138569991-138569991
CAintronicDe novo--Yuen2017 G
ARFGEF3     EGAN00001101334chr6:
138566697-138566697
GAexonicDe novononsynonymous SNVNM_020340c.G634Ap.V212I16.688.458E-5Satterstrom2020 E
ARFGEF3     1-0049-004chr6:
138644273-138644273
AATGATintronicDe novo--Yuen2017 G
ARFGEF3     10C104999chr6:
138576562-138576562
TCintronicDe novo--Satterstrom2020 E
ARFGEF3     Viggiano2022:22.3chr6:
138657514-138657514
TGexonicDe novononsynonymous SNVNM_020340c.T6425Gp.V2142G29.9-Viggiano2022 GT
ARFGEF3     12735.p1chr6:
138615277-138615277
TCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ARFGEF3     2-0158-003chr6:
138679771-138679771
TCintergenicDe novo--Yuen2017 G
ARFGEF3     AU4235301chr6:
138667475-138667475
AGintergenicDe novo--Yuen2017 G
ARFGEF3     Viggiano2022:22.4chr6:
138657514-138657514
TGexonicDe novononsynonymous SNVNM_020340c.T6425Gp.V2142G29.9-Viggiano2022 GT
ARFGEF3     11691.p1chr6:
138655747-138655747
CAexonicMosaic Mat.nonsynonymous SNVNM_020340c.C5764Ap.L1922M14.45-Dou2017 E
ARFGEF3     1-0191-003chr6:
138705307-138705307
GTintergenicDe 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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