Variant Results

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Results for "RAB31"

Variant Events: 29

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

RAB31

AU4054302

chr18:
9676646-9676646

A

G

intergenic

De novo

-

-

Yuen2017 G

RAB31

AU1542303

chr18:
9841204-9841204

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAB31

1-0279-004

chr18:
9798961-9798961

G

C

intronic

De novo

-

-

Trost2022 G

RAB31

AU2697301

chr18:
9853489-9853489

A

T

intronic

De novo

-

-

Trost2022 G

RAB31

MSSNG00136-003

chr18:
9746838-9746838

C

T

intronic

De novo

-

-

Trost2022 G

RAB31

7-0281-003

chr18:
9795268-9795268

C

T

intronic

De novo

-

-

Trost2022 G

RAB31

AU3343301

chr18:
9838544-9838544

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAB31

AU1687302

chr18:
9736506-9736506

G

T

intronic

De novo

-

-

Trost2022 G

RAB31

1-1018-003

chr18:
9738628-9738628

C

T

intronic

De novo

-

-

Trost2022 G

RAB31

2-0158-003

chr18:
9878841-9878841

G

A

intergenic

De novo

-

-

Yuen2017 G

RAB31

AU079605

chr18:
9872547-9872547

A

G

intergenic

De novo

-

-

Yuen2017 G

RAB31

7-0248-003

chr18:
9661635-9661635

T

G

intergenic

De novo

-

-

Yuen2017 G

RAB31

14663.p1

chr18:
9815108-9815108

T

C

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RAB31

2-0296-004

chr18:
9751712-9751712

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAB31

1-0495-003

chr18:
9723390-9723390

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAB31

A15

chr18:
9836728-9836728

G

A

intronic

De novo

-

-

Wu2018 G

RAB31

1-0530-003

chr18:
9627987-9627987

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RAB31

2-1300-003

chr18:
9668966-9668966

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RAB31

111309

chr18:
9814045-9814045

G

A

exonic

nonsynonymous SNV

NM_006868

c.G230A

p.R77Q

35.0

-

Woodbury-Smith2022 E

RAB31

2-1514-003

chr18:
9830417-9830417

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAB31

63-449

chr18:
9795027-9795027

G

A

intronic

De novo

-

-

Michaelson2012 G

RAB31

60-2027

chr18:
9822606-9822606

C

T

intronic

De novo

-

-

Michaelson2012 G

RAB31

1-0661-003

chr18:
9764411-9764411

C

T

intronic

De novo

-

-

Yuen2017 G

RAB31

1-0269-003

chr18:
9808493-9808493

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAB31

A14

chr18:
9706992-9706992

A

G

intergenic

De novo

-

-

Wu2018 G

RAB31

7-0008-003

chr18:
9828482-9828482

T

G

intronic

De novo

-

-

Yuen2017 G

RAB31

14663_p1

chr18:
9815108-9815108

T

C

intronic

De novo

-

-

Fu2022 E

RAB31

AU038204

chr18:
9738877-9738877

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAB31

AU4032306

chr18:
9822225-9822225

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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