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Results for "ARFGEF3"

Variant Events: 32

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     SP0051451chr6:
138608032-138608032
GAexonicDe novononsynonymous SNVNM_020340c.G2764Ap.A922T20.5-Fu2022 E
Trost2022 G
Zhou2022 GE
ARFGEF3     7-0150-003chr6:
138643700-138643700
GAintronicDe novo--Trost2022 G
ARFGEF3     Wang2023:562chr6:
138655729-138655729
ACexonicDe novononsynonymous SNVNM_020340c.A5746Cp.I1916L26.1-Wang2023 E
ARFGEF3     2-1362-004chr6:
138645610-138645614
TACTGGCTTAintronicDe novo--Trost2022 G
ARFGEF3     1-0289-004chr6:
138621390-138621395
TTAAGATintronicDe novo--Trost2022 G
ARFGEF3     1-0469-005chr6:
138628875-138628875
GCAintronicDe novo--Trost2022 G
ARFGEF3     SP0061725chr6:
138608082-138608082
GAintronicDe novo-9.4E-6Fu2022 E
Trost2022 G
ARFGEF3     SP0068182chr6:
138531058-138531058
GAexonicDe novosynonymous SNVNM_020340c.G231Ap.S77S-3.297E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ARFGEF3     1-0049-004chr6:
138644273-138644273
AATGATintronicDe novo--Trost2022 G
Yuen2017 G
ARFGEF3     10C104999chr6:
138576562-138576562
TCintronicDe novo--Satterstrom2020 E
Trost2022 G
ARFGEF3     Viggiano2022:22.3chr6:
138657514-138657514
TGexonicDe novononsynonymous SNVNM_020340c.T6425Gp.V2142G29.9-Viggiano2022 GT
ARFGEF3     Viggiano2022:22.4chr6:
138657514-138657514
TGexonicDe novononsynonymous SNVNM_020340c.T6425Gp.V2142G29.9-Viggiano2022 GT
ARFGEF3     11144.p1chr6:
138644860-138644860
GTexonicnonsynonymous SNVNM_020340c.G4819Tp.A1607S24.7-Zhou2022 GE
ARFGEF3     AU4029301chr6:
138598361-138598361
AGintronicDe novo--Trost2022 G
Yuen2017 G
ARFGEF3     2-0210-005chr6:
138569991-138569991
CAintronicDe novo--Trost2022 G
Yuen2017 G
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     04C35327chr6:
138640928-138640928
CGexonicDe novostopgainNM_020340c.C4563Gp.Y1521X46.0-Fu2022 E
ARFGEF3     F11002-1chr6:
138528250-138528250
CTexonicDe novononsynonymous SNVNM_020340c.C209Tp.A70V20.7-Fu2022 E
ARFGEF3     11144_p1chr6:
138644860-138644860
GTexonicDe novononsynonymous SNVNM_020340c.G4819Tp.A1607S24.7-Fu2022 E
ARFGEF3     1-0191-003chr6:
138705307-138705307
GTintergenicDe novo--Yuen2017 G
ARFGEF3     1183_17chr6:
138610813-138610813
CGintronicDe novo--Fu2022 E
ARFGEF3     EGAN00001101334chr6:
138566697-138566697
GAexonicDe novononsynonymous SNVNM_020340c.G634Ap.V212I16.688.458E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ARFGEF3     AU4235301chr6:
138667475-138667475
AGintergenicDe novo--Yuen2017 G
ARFGEF3     1-0957-003chr6:
138593941-138593941
TAintronicDe novo--Trost2022 G
ARFGEF3     SSC05990chr6:
138615277-138615277
TCintronicDe novo--Trost2022 G
ARFGEF3     11691.p1chr6:
138655747-138655747
CAexonicMosaic Mat.nonsynonymous SNVNM_020340c.C5764Ap.L1922M14.45-Dou2017 E
ARFGEF3     MSSNG00089-003chr6:
138556420-138556420
TCintronicDe novo--Trost2022 G
ARFGEF3     REACH000653chr6:
138564789-138564789
AGintronicDe novo--Trost2022 G
ARFGEF3     AU2463301chr6:
138490608-138490608
GAintronicDe novo--Trost2022 G
ARFGEF3     5-5146-003chr6:
138526389-138526389
CTintronicDe novo--Trost2022 G
ARFGEF3     4-0062-003chr6:
138486386-138486386
TGAGAGAGGTCintronicDe novo--Trost2022 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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