Variant Results

or

Results for "RFPL4B"

Variant Events: 65

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

RFPL4B

1-0445-003

chr6:
113751781-113751781

C

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0402-004

chr6:
113198913-113198913

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU1698302

chr6:
113133645-113133645

T

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU066404

chr6:
113616125-113616125

T

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-1337-003

chr6:
113417056-113417056

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0139-005

chr6:
113822136-113822136

G

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0533-003

chr6:
112802619-112802619

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-1411-003

chr6:
113633735-113633736

TC

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0389-004

chr6:
113397187-113397187

A

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

7-0161-003

chr6:
113006211-113006211

C

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU057405

chr6:
112785029-112785029

T

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU4024303

chr6:
113685841-113685841

G

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0006-003

chr6:
112916898-112916898

C

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0208-003

chr6:
113603801-113603801

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

A26

chr6:
113741454-113741454

G

A

intergenic

De novo

-

Wu2018 G

RFPL4B

AU1521301

chr6:
112690884-112690884

T

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

5-0030-003

chr6:
113017929-113017929

C

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

5-0050-004

chr6:
113816260-113816260

T

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU1764301

chr6:
113747120-113747120

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-1327-004

chr6:
113500444-113500444

G

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU4215302

chr6:
113187521-113187521

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU3861302

chr6:
112768222-112768222

A

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU002903

chr6:
113069317-113069317

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0214-003

chr6:
113335673-113335673

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0638-003

chr6:
113412585-113412585

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-1518-003

chr6:
112799557-112799557

T

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU012804

chr6:
112945906-112945906

G

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU3790301

chr6:
113513686-113513686

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0443-003

chr6:
113102052-113102052

T

G

intergenic

De novo

-

Yuen2016 G

RFPL4B

2-1430-003

chr6:
112712671-112712671

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RFPL4B

AU4149301

chr6:
112876878-112876878

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0479-006

chr6:
113821341-113821341

C

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0382-003

chr6:
112934037-112934037

C

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU2248301

chr6:
113700041-113700041

C

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0455-004

chr6:
113395039-113395039

C

CAAAACAATCAAATGTCCATCAATGGGAAAATTTCAAAA

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU066206

chr6:
113370505-113370505

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU4067303

chr6:
113445426-113445426

G

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

5-0026-003

chr6:
113666680-113666680

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0547-003

chr6:
113663390-113663390

A

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-0045-003

chr6:
113635604-113635604

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RFPL4B

2-1477-003

chr6:
113213114-113213114

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RFPL4B

AU4463303

chr6:
113769816-113769816

G

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-1246-003

chr6:
112672433-112672433

A

C

UTR3

De novo

-

Yuen2017 G

RFPL4B

1-0272-004

chr6:
112905014-112905014

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0295-003

chr6:
113100251-113100251

T

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0699-003

chr6:
112961627-112961627

T

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0489-003

chr6:
113912982-113912982

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RFPL4B

2-1292-003

chr6:
113016518-113016527

AGGAAGAGCT

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

5-0077-003

chr6:
113840794-113840798

AAATG

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-0002-005

chr6:
112735951-112735951

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-1231-003

chr6:
112821593-112821607

CTATATATATATATA

CTATATATATATA

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0051-004

chr6:
113764883-113764886

AGAG

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU0636303

chr6:
113054342-113054342

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU4250301

chr6:
113092330-113092330

A

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

G01-GEA-27-HI

chr6:
112671692-112671692

T

C

exonic

De novo

nonsynonymous SNV

NM_001013734

c.T782C

p.I261T

14.6

-

Lim2017 E
Satterstrom2020 E

RFPL4B

AU021204

chr6:
113522158-113522158

G

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-1409-003

chr6:
113679642-113679642

G

A

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU2140305

chr6:
112853890-112853890

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU2140305

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

RFPL4B

1-0253-004

chr6:
112798754-112798754

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0028-003

chr6:
113400374-113400374

C

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

2-0018-004

chr6:
113242884-113242884

T

C

intergenic

De novo

-

Yuen2017 G

RFPL4B

1-0139-003

chr6:
113801490-113801490

T

G

intergenic

De novo

-

Yuen2017 G

RFPL4B

AU3984301

chr6:
112796931-112796931

G

T

intergenic

De novo

-

Yuen2017 G

RFPL4B

13403.p1

chr6:
113164741-113164741

G

A

intergenic

De novo

-

Werling2018 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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