Variant Results

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or

Results for "RAP1GAP2"

Variant Events: 23

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

RAP1GAP2

1-0049-004

chr17:
2865475-2865475

C

T

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

AU3397302

chr17:
2911052-2911052

G

C

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

1-0139-005

chr17:
2938359-2938359

C

T

UTR3

De novo

-

-

Yuen2017 G

RAP1GAP2

AU034904

chr17:
2799016-2799016

G

A

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

3C024

chr17:
2930214-2930214

C

T

intronic

De novo

-

-

Satterstrom2020 E

RAP1GAP2

1-0161-004

chr17:
2721188-2721188

G

GT

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

1-0175-003

chr17:
2782148-2782148

C

T

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

09C100462

chr17:
2901580-2901580

G

A

exonic

De novo

synonymous SNV

NM_001100398
NM_015085

c.G1065A
c.G1110A

p.P355P
p.P370P

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RAP1GAP2

AU017304

chr17:
2961422-2961431

ATCTTCTTCT

ATCTTCT

intergenic

De novo

-

-

Yuen2017 G

RAP1GAP2

2-1518-003

chr17:
2717061-2717061

C

T

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

2-1379-003

chr17:
2819527-2819527

T

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

RAP1GAP2

7-0191-003

chr17:
2736798-2736798

C

A

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

SP0059366

chr17:
2888325-2888325

T

C

exonic

De novo

nonsynonymous SNV

NM_001100398
NM_015085

c.T733C
c.T778C

p.F245L
p.F260L

23.5

-

Fu2022 E

RAP1GAP2

AU3052303

chr17:
2801797-2801797

C

T

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

AU3801301

chr17:
2850659-2850659

G

T

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

SP0099455

chr17:
2930188-2930188

C

T

intronic

De novo

-

Fu2022 E

RAP1GAP2

2-1152-003

chr17:
2811161-2811161

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

RAP1GAP2

AU036203

chr17:
2757487-2757487

C

G

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

1-0473-003

chr17:
2901315-2901315

G

A

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

2-1205-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

RAP1GAP2

AU3782303

chr17:
2813973-2813973

C

T

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

2-1174-005B

chr17:
2736811-2736811

C

T

intronic

De novo

-

-

Yuen2017 G

RAP1GAP2

AU3997302

chr17:
2809703-2809703

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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