Variant Results

or

Results for "RARB"

Variant Events: 35

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

RARB

11341.p1

chr3:
25482681-25482681

G

A

intronic

De novo

-

Turner2016 G

RARB

1-0572-003

chr3:
25607008-25607008

G

A

intronic

De novo

-

Yuen2017 G

RARB

13946.p1

chr3:
25407397-25407397

G

C

intronic

De novo

-

Turner2016 G

RARB

AU2139301

chr3:
25254451-25254451

C

T

intronic

De novo

-

Yuen2017 G

RARB

2-1329-003

chr3:
25597754-25597754

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RARB

2-1406-003

chr3:
25458903-25458903

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RARB

1-0079-003

chr3:
25424438-25424438

A

T

intronic

De novo

-

Yuen2017 G

RARB

2-1280-003

chr3:
25515654-25515654

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RARB

1-0568-003

chr3:
25291341-25291341

A

AGTATTGCCAGGTCCAGTTGG

intronic

De novo

-

Yuen2017 G

RARB

2-1456-004

chr3:
25338134-25338134

G

C

intronic

De novo

-

Yuen2017 G

RARB

2-1456-004

chr3:
25335517-25335517

T

A

intronic

De novo

-

Yuen2017 G

RARB

2-1579-003

chr3:
25365606-25365606

C

G

intronic

De novo

-

Yuen2017 G

RARB

AU4056302

chr3:
25575155-25575155

A

G

intronic

De novo

-

Yuen2017 G

RARB

2-1525-003

chr3:
25374679-25374679

T

C

intronic

De novo

-

Yuen2017 G

RARB

AU3779302

chr3:
25233665-25233665

G

A

intronic

De novo

-

Yuen2017 G

RARB

AU3918302

chr3:
25317659-25317659

C

T

intronic

De novo

-

Yuen2017 G

RARB

AU3760301

chr3:
25627335-25627335

C

T

intronic

De novo

-

Yuen2017 G

RARB

NDAR_INVFD105FB0_wes1

chr3:
25470300-25470300

C

A

exonic

stopgain

NM_000965
NM_001290277

c.C78A
c.C78A

p.C26X
p.C26X

41.0

-

Doan2019 E

RARB

1-0007-003

chr3:
25290356-25290356

T

C

intronic

De novo

-

Yuen2017 G

RARB

2-0303-004

chr3:
25450857-25450857

G

A

intronic

De novo

-

Yuen2017 G

RARB

2-0016-003

chr3:
25554926-25554926

G

A

intronic

De novo

-

Yuen2017 G

RARB

2-1154-003

chr3:
25225013-25225013

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RARB

1-0439-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

RARB

AU2109302

chr3:
25386500-25386500

T

A

intronic

De novo

-

Yuen2017 G

RARB

1-0139-005

chr3:
25450253-25450253

G

A

intronic

De novo

-

Yuen2017 G

RARB

2-1223-003

chr3:
25262166-25262166

C

T

intronic

De novo

-

Yuen2017 G

RARB

2-0070-004

chr3:
25563833-25563833

C

A

intronic

De novo

-

Yuen2017 G

RARB

2-0036-003

chr3:
25554926-25554926

G

A

intronic

De novo

-

Yuen2016 G

RARB

2-0028-003

chr3:
25347693-25347693

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RARB

AU1698301

chr3:
25394410-25394410

G

A

intronic

De novo

-

Yuen2017 G

RARB

2-1427-003

chr3:
25532802-25532802

A

G

intronic

De novo

-

Yuen2017 G

RARB

AU4356302

chr3:
25616996-25616996

C

T

intronic

De novo

-

Yuen2017 G

RARB

1-0010-003

chr3:
25467661-25467661

T

C

intronic

De novo

-

Yuen2017 G

RARB

5-0050-004

chr3:
25328172-25328172

T

C

intronic

De novo

-

Yuen2017 G

RARB

AU2293301

chr3:
25621728-25621728

G

A

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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