Variant Results

or

or

Results for "RHOU"

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

RHOU

AU1894304

chr1:
229225292-229225292

T

C

intergenic

De novo

-

-

Yuen2017 G

RHOU

1-0285-003

chr1:
228946498-228946498

C

T

intergenic

De novo

-

-

Yuen2017 G

RHOU

1-0632-003

chr1:
229118925-229118925

T

TCCCCCCCC

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU4444304

chr1:
229017574-229017574

C

G

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU3122301

chr1:
229040797-229040797

G

C

intergenic

De novo

-

-

Yuen2017 G

RHOU

1-0604-003

chr1:
229234658-229234672

CCTCTCTCTCTCTCT

CCTCTCTCTCTCT

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU4359301

chr1:
229058062-229058062

T

C

intergenic

De novo

-

-

Yuen2017 G

RHOU

5-0025-003

chr1:
229279232-229279232

C

T

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU4465303

chr1:
228909575-228909575

A

G

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU4029302

chr1:
229134526-229134526

C

T

intergenic

De novo

-

-

Yuen2017 G

RHOU

1-0518-003

chr1:
229008939-229008939

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RHOU

2-1328-003

chr1:
229263973-229263973

C

T

intergenic

De novo

-

-

Yuen2016 G

RHOU

3-0485-000A

chr1:
228877494-228877494

A

G

intronic

De novo

-

-

Trost2022 G

RHOU

1-0546-003

chr1:
229234658-229234672

CCTCTCTCTCTCTCT

CCTCTCTCTCTCT

intergenic

De novo

-

-

Yuen2017 G

RHOU

1-0150-003

chr1:
229121605-229121605

C

A

intergenic

De novo

-

-

Yuen2017 G

RHOU

2-0197-004

chr1:
229076270-229076270

G

T

intergenic

De novo

-

-

Yuen2017 G

RHOU

1-0673-003

chr1:
228997833-228997833

C

T

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU2792302

chr1:
229225047-229225047

G

A

intergenic

De novo

-

-

Yuen2017 G

RHOU

5-0003-003

chr1:
229263849-229263865

ACCCAGAATTTCTTTGT

A

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU3918301

chr1:
229042073-229042073

C

A

intergenic

De novo

-

-

Yuen2017 G

RHOU

2-1170-003

chr1:
229116409-229116409

G

A

intergenic

De novo

-

-

Yuen2017 G

RHOU

A16

chr1:
229029261-229029261

G

T

intergenic

De novo

-

-

Wu2018 G

RHOU

SP0020827

chr1:
228871599-228871599

G

T

exonic

De novo

nonsynonymous SNV

NM_021205

c.G110T

p.G37V

11.93

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

RHOU

2-1213-003

chr1:
228978146-228978146

T

A

intergenic

De novo

-

-

Yuen2017 G

RHOU

AU0780301

chr1:
228932539-228932539

A

T

intergenic

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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