Variant Results

or

Results for "RAB2A"

Variant Events: 30

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

RAB2A

13537.p1

chr8:
61484615-61484615

C

T

exonic

De novo

synonymous SNV

NM_001242644
NM_002865

c.C57T
c.C129T

p.F19F
p.F43F

-

9.578E-5

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

RAB2A

AU4347301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

RAB2A

1-1004-003

chr8:
61493920-61493920

G

A

intronic

De novo

-

Yuen2017 G

RAB2A

3-0458-000B

chr8:
61440999-61440999

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAB2A

1-0497-003

chr8:
61583767-61583781

TAGAGAGAGAGAGAG

TAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

RAB2A

11077.p1

chr8:
61484622-61484622

C

T

exonic

De novo

stopgain

NM_001242644
NM_002865

c.C64T
c.C136T

p.R22X
p.R46X

28.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

RAB2A

5-0055-003

chr8:
61527045-61527050

AAGCAG

GTGA

intronic

De novo

-

Trost2022 G

RAB2A

5-0055-003

chr8:
61527053-61527054

TT

CG

intronic

De novo

-

Trost2022 G

RAB2A

REACH000517

chr8:
61494942-61494942

C

T

intronic

De novo

-

Trost2022 G

RAB2A

1-1183-003

chr8:
61524695-61524695

A

G

intronic

De novo

-

Trost2022 G

RAB2A

5-5159-003

chr8:
61460400-61460400

C

T

intronic

De novo

-

Trost2022 G

RAB2A

MT_178.4

chr8:
61467748-61467748

C

T

intronic

De novo

-

Trost2022 G

RAB2A

MT_81.3

chr8:
61431442-61431444

CTG

C

intronic

De novo

-

Trost2022 G

RAB2A

2-0116-005

chr8:
61431727-61431729

GTA

TCC

intronic

De novo

-

Trost2022 G

RAB2A

1-0381-003

chr8:
61531711-61531715

TAAAA

TAA

intronic

De novo

-

Yuen2017 G

RAB2A

3-0458-000

chr8:
61440999-61440999

T

C

intronic

De novo

-

Yuen2016 G

RAB2A

5-0055-003

chr8:
61527074-61527074

G

A

intronic

De novo

-

Trost2022 G

RAB2A

7-0128-003

chr8:
61539055-61539055

T

A

intergenic

De novo

-

Yuen2017 G

RAB2A

AU2463301

chr8:
61534573-61534573

T

A

UTR3

De novo

-

Trost2022 G

RAB2A

5-0055-003

chr8:
61527057-61527057

T

C

intronic

De novo

-

Trost2022 G

RAB2A

5-0055-003

chr8:
61527069-61527071

TTT

C

intronic

De novo

-

Trost2022 G

RAB2A

Uddin2014:25

chr8:
61484622-61484622

C

T

exonic

De novo

stopgain

NM_001242644
NM_002865

c.C64T
c.C136T

p.R22X
p.R46X

28.2

-

Uddin2014 E

RAB2A

M18426

chr8:
61504467-61504467

C

T

exonic

Unknown

nonsynonymous SNV

NM_001242644
NM_002865

c.C341T
c.C413T

p.A114V
p.A138V

36.0

-

Guo2018 T
Wang2016 T

RAB2A

SSC08711

chr8:
61484615-61484615

C

T

exonic

De novo

synonymous SNV

NM_001242644
NM_002865

c.C57T
c.C129T

p.F19F
p.F43F

-

9.578E-5

Fu2022 E
Trost2022 G

RAB2A

NDAR_INVRT684RNC_wes1

chr8:
61533310-61533310

T

G

exonic

De novo

synonymous SNV

NM_001242644
NM_002865

c.T549G
c.T621G

p.A183A
p.A207A

12.25

-

Lim2017 E

RAB2A

AU4487302

chr8:
61442234-61442234

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAB2A

3-0458-000A

chr8:
61440999-61440999

T

C

intronic

De novo

-

Yuen2017 G

RAB2A

SSC02583

chr8:
61484622-61484622

C

T

exonic

De novo

stopgain

NM_001242644
NM_002865

c.C64T
c.C136T

p.R22X
p.R46X

28.2

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

RAB2A

2-1255-003

chr8:
61431261-61431276

CGTGTGTGTGTGTGTG

CGTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

RAB2A

AU3727302

chr8:
61506025-61506025

G

A

intronic

De novo

-

Trost2022 G
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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