Variant Results

or

or

Results for "ARFGEF3"

Variant Events: 19

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

AU4029301

chr6:
138598361-138598361

A

G

intronic

De novo

-

-

Yuen2017 G

ARFGEF3

2-0210-005

chr6:
138569991-138569991

C

A

intronic

De novo

-

-

Yuen2017 G

ARFGEF3

SP0051451

chr6:
138608032-138608032

G

A

exonic

De novo

nonsynonymous SNV

NM_020340

c.G2764A

p.A922T

20.5

-

Fu2022 E

ARFGEF3

12735.p1

chr6:
138615277-138615277

T

C

intronic

De novo

-

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ARFGEF3

2-0158-003

chr6:
138679771-138679771

T

C

intergenic

De novo

-

-

Yuen2017 G

ARFGEF3

04C35327

chr6:
138640928-138640928

C

G

exonic

De novo

stopgain

NM_020340

c.C4563G

p.Y1521X

46.0

-

Fu2022 E

ARFGEF3

F11002-1

chr6:
138528250-138528250

C

T

exonic

De novo

nonsynonymous SNV

NM_020340

c.C209T

p.A70V

20.7

-

Fu2022 E

ARFGEF3

11144_p1

chr6:
138644860-138644860

G

T

exonic

De novo

nonsynonymous SNV

NM_020340

c.G4819T

p.A1607S

24.7

-

Fu2022 E

ARFGEF3

1-0191-003

chr6:
138705307-138705307

G

T

intergenic

De novo

-

-

Yuen2017 G

ARFGEF3

SP0061725

chr6:
138608082-138608082

G

A

intronic

De novo

-

Fu2022 E

ARFGEF3

SP0068182

chr6:
138531058-138531058

G

A

exonic

De novo

synonymous SNV

NM_020340

c.G231A

p.S77S

-

Fu2022 E

ARFGEF3

1183_17

chr6:
138610813-138610813

C

G

intronic

De novo

-

-

Fu2022 E

ARFGEF3

EGAN00001101334

chr6:
138566697-138566697

G

A

exonic

De novo

nonsynonymous SNV

NM_020340

c.G634A

p.V212I

16.68

Fu2022 E
Satterstrom2020 E

ARFGEF3

1-0049-004

chr6:
138644273-138644273

A

ATGAT

intronic

De novo

-

-

Yuen2017 G

ARFGEF3

10C104999

chr6:
138576562-138576562

T

C

intronic

De novo

-

-

Satterstrom2020 E

ARFGEF3

Viggiano2022:22.3

chr6:
138657514-138657514

T

G

exonic

De novo

nonsynonymous SNV

NM_020340

c.T6425G

p.V2142G

29.9

-

Viggiano2022 GT

ARFGEF3

AU4235301

chr6:
138667475-138667475

A

G

intergenic

De novo

-

-

Yuen2017 G

ARFGEF3

Viggiano2022:22.4

chr6:
138657514-138657514

T

G

exonic

De novo

nonsynonymous SNV

NM_020340

c.T6425G

p.V2142G

29.9

-

Viggiano2022 GT

ARFGEF3

11691.p1

chr6:
138655747-138655747

C

A

exonic

Mosaic Mat.

nonsynonymous SNV

NM_020340

c.C5764A

p.L1922M

14.45

-

Dou2017 E

Source Variant Information

, -

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 notes	View
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