Variant Results

or

Results for "RAPGEF4"

Variant Events: 25

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

RAPGEF4

7-0130-003

chr2:
173772150-173772150

G

A

intronic

De novo

-

Yuen2017 G

RAPGEF4

1-0874-003

chr2:
173728179-173728179

C

T

intronic

De novo

-

Yuen2017 G

RAPGEF4

AU201A

chr2:
173898693-173898693

G

A

splicing

De novo

splicing

25.6

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RAPGEF4

AU2139303

chr2:
173832154-173832154

G

A

exonic

De novo

nonsynonymous SNV

NM_001282901
NM_001282900
NM_001100397
NM_001282899
NM_007023

c.G326A
c.G473A
c.G554A
c.G527A
c.G986A

p.R109K
p.R158K
p.R185K
p.R176K
p.R329K

21.0

-

Yuen2017 G

RAPGEF4

NDAR_INVWJ494BME_wes1

chr2:
173787028-173787028

C

T

exonic

Mosaic

synonymous SNV

NM_001100397
NM_001282899
NM_001282900
NM_007023

c.C105T
c.C78T
c.C78T
c.C537T

p.N35N
p.N26N
p.N26N
p.N179N

-

3.313E-5

Lim2017 E

RAPGEF4

1-0627-004

chr2:
173737677-173737677

A

G

intronic

De novo

-

Yuen2017 G

RAPGEF4

2-1131-003

chr2:
173754414-173754430

GACACACACACACACAC

GACACACACACACAC

intronic

De novo

-

Yuen2017 G

RAPGEF4

SSC09204

chr2:
173885400-173885400

A

G

exonic

De novo

nonsynonymous SNV

NM_001282901
NM_001282900
NM_001100397
NM_001282899
NM_007023

c.A1550G
c.A1697G
c.A1778G
c.A1751G
c.A2210G

p.N517S
p.N566S
p.N593S
p.N584S
p.N737S

26.1

-

Fu2022 E
Lim2017 E

RAPGEF4

2-1250-003

chr2:
173848799-173848799

A

G

intronic

De novo

-

Yuen2017 G

RAPGEF4

12224.p1

chr2:
173883542-173883542

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

RAPGEF4

13869.p1

chr2:
173885400-173885400

A

G

exonic

De novo

nonsynonymous SNV

NM_001282901
NM_001282900
NM_001100397
NM_001282899
NM_007023

c.A1550G
c.A1697G
c.A1778G
c.A1751G
c.A2210G

p.N517S
p.N566S
p.N593S
p.N584S
p.N737S

26.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

RAPGEF4

AU3768302

chr2:
173817088-173817088

G

A

intronic

De novo

-

Yuen2017 G

RAPGEF4

AU060803

chr2:
173936420-173936420

A

G

intergenic

De novo

-

Yuen2017 G

RAPGEF4

5-0065-003

chr2:
173806416-173806416

G

C

intronic

De novo

-

Yuen2017 G

RAPGEF4

AU3912302

chr2:
173900100-173900100

C

A

intronic

De novo

-

Yuen2017 G

RAPGEF4

2-1237-003

chr2:
173730359-173730359

C

A

intronic

De novo

-

Yuen2017 G

RAPGEF4

5-0109-003

chr2:
173710424-173710424

C

T

intronic

De novo

-

Yuen2017 G

RAPGEF4

2-0006-003

chr2:
173899235-173899235

G

A

intronic

De novo

-

Yuen2017 G

RAPGEF4

iHART2809

chr2:
173832154-173832154

G

A

exonic

De novo

nonsynonymous SNV

NM_001282901
NM_001282900
NM_001100397
NM_001282899
NM_007023

c.G326A
c.G473A
c.G554A
c.G527A
c.G986A

p.R109K
p.R158K
p.R185K
p.R176K
p.R329K

21.0

-

Ruzzo2019 G

RAPGEF4

1-0265-004

chr2:
173838574-173838574

C

T

intronic

De novo

-

Yuen2017 G

RAPGEF4

2-1627-003

chr2:
173921723-173921723

G

A

intergenic

De novo

-

Yuen2017 G

RAPGEF4

21758-34760

chr2:
173787029-173787029

G

A

splicing

18.46

6.625E-5

Callaghan2019 G

RAPGEF4

2-1487-003

chr2:
173727544-173727545

CA

CAA

intronic

De novo

-

Yuen2017 G

RAPGEF4

2-1337-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

RAPGEF4

AU1860301

chr2:
173908248-173908248

A

G

intronic

De novo

-

Yuen2017 G

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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