Variant Results

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or

Results for "RAP1GAP"

Variant Events: 18

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

RAP1GAP

DEASD_0277_001

chr1:
21929359-21929359

C

T

exonic

De novo

synonymous SNV

NM_001145658
NM_002885
NM_001145657

c.G1668A
c.G1476A
c.G1554A

p.P556P
p.P492P
p.P518P

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RAP1GAP

2-1454-003

chr1:
21981878-21981891

GACACACACACACA

GACACACACACA

intronic

De novo

-

-

Yuen2017 G

RAP1GAP

AU4092302

chr1:
21937822-21937822

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAP1GAP

A1

chr1:
21936419-21936419

A

G

intronic

De novo

-

-

Wu2018 G

RAP1GAP

AU2236301

chr1:
21952794-21952794

T

C

intronic

-

-

Zhou2022 GE

RAP1GAP

13800.p1

chr1:
21930203-21930203

G

A

intronic

26.9

-

Zhou2022 GE

RAP1GAP

1-0045-004

chr1:
21940343-21940343

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAP1GAP

AU3782302

chr1:
21993317-21993317

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAP1GAP

AU3951302

chr1:
21946033-21946033

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAP1GAP

AU2579302

chr1:
21983492-21983492

C

T

intronic

De novo

-

-

Trost2022 G

RAP1GAP

SP0008060

chr1:
21945531-21945531

G

A

exonic

De novo

nonsynonymous SNV

NM_001145658
NM_002885
NM_001145657

c.C245T
c.C53T
c.C53T

p.P82L
p.P18L
p.P18L

23.2

Fu2022 E
Trost2022 G
Zhou2022 GE

RAP1GAP

MSSNG00358-004

chr1:
21967570-21967570

T

A

intronic

De novo

-

-

Trost2022 G

RAP1GAP

AU066404

chr1:
21986343-21986343

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAP1GAP

AU2463301

chr1:
21988443-21988443

G

A

intronic

De novo

-

-

Trost2022 G

RAP1GAP

MT_22.3

chr1:
21941321-21941322

TC

T

intronic

De novo

-

-

Trost2022 G

RAP1GAP

MSSNG00025-003

chr1:
21928303-21928303

C

T

intronic

De novo

-

Trost2022 G

RAP1GAP

4-0069-003

chr1:
21951102-21951102

C

T

intronic

De novo

-

-

Trost2022 G

RAP1GAP

2-1686-003

chr1:
21947661-21947661

A

G

intronic

De 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 notes	View
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