Variant Results

or

Results for "REEP3"

Variant Events: 83

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

REEP3

2-1426-003

chr10:
65586400-65586400

T

A

intergenic

De novo

-

Yuen2017 G

REEP3

AU3782303

chr10:
65462200-65462200

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

AU2951302

chr10:
65456968-65456968

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

A20

chr10:
65925959-65925962

TAAA

T

intergenic

De novo

-

Wu2018 G

REEP3

7-0068-003

chr10:
66234174-66234174

G

C

intergenic

De novo

-

Yuen2017 G

REEP3

1-0395-004

chr10:
65287333-65287333

G

A

intronic

De novo

-

Yuen2017 G

REEP3

2-1508-003

chr10:
65335864-65335864

A

G

intronic

De novo

-

Yuen2017 G

REEP3

AU4235303

chr10:
65472955-65472955

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

2-1430-003

chr10:
66481023-66481023

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

REEP3

AU4176302

chr10:
65612788-65612788

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

AU3725302

chr10:
65629731-65629731

A

T

intergenic

De novo

-

Yuen2017 G

REEP3

A31

chr10:
66321827-66321827

A

T

intergenic

De novo

-

Wu2018 G

REEP3

AU047904

chr10:
65336054-65336054

G

T

intronic

De novo

-

Yuen2017 G

REEP3

1-0041-003

chr10:
66269782-66269782

T

A

intergenic

De novo

-

Yuen2017 G

REEP3

AU3764302

chr10:
66438659-66438659

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

1-0169-004

chr10:
66537821-66537821

A

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU050403

chr10:
65251468-65251468

A

G

intergenic

De novo

-

Yuen2017 G

REEP3

AU2035302

chr10:
66070044-66070044

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

1-0007-003

chr10:
66033881-66033881

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

A19

chr10:
65625273-65625273

A

G

intergenic

De novo

-

Wu2018 G

REEP3

AU3857301

chr10:
65375574-65375574

G

A

intronic

De novo

-

Yuen2017 G

REEP3

AU3124304

chr10:
66279227-66279227

C

G

intergenic

De novo

-

Yuen2017 G

REEP3

2-1290-003

chr10:
66009705-66009705

G

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU3839302

chr10:
65893846-65893846

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

7-0223-003

chr10:
65413420-65413420

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

7-0254-004

chr10:
66314364-66314364

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

AU3124304

chr10:
66279160-66279160

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

2-1275-003

chr10:
65913397-65913397

G

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU056005

chr10:
66287741-66287741

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU3124304

chr10:
66279206-66279206

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU075207

chr10:
66096660-66096660

A

G

intergenic

De novo

-

Yuen2017 G

REEP3

AU2035301

chr10:
66070044-66070044

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU075207

chr10:
66269385-66269385

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

AU3905302

chr10:
65596194-65596194

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU3874301

chr10:
66546247-66546247

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU4072303

chr10:
66517955-66517955

A

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU034904

chr10:
65680405-65680405

A

C

intergenic

De novo

-

Yuen2017 G

REEP3

A17

chr10:
65891833-65891833

C

T

intergenic

De novo

-

Wu2018 G

REEP3

A27

chr10:
65925959-65925962

TAAA

T

intergenic

De novo

-

Wu2018 G

REEP3

AU3721301

chr10:
66338655-66338655

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

2-0145-004

chr10:
65561804-65561807

TAGA

T

intergenic

De novo

-

Yuen2017 G

REEP3

1-0233-004

chr10:
66239763-66239763

A

G

intergenic

De novo

-

Yuen2017 G

REEP3

5-0138-003

chr10:
66089949-66089949

G

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU059903

chr10:
65592626-65592626

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

2-1581-003

chr10:
65400666-65400666

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU4228301

chr10:
65399641-65399641

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

1-0638-003

chr10:
65663600-65663621

AATTATTATTATTATTATTATT

AATTATTATTATTATTATT

intergenic

De novo

-

Yuen2017 G

REEP3

AU4029302

chr10:
66194000-66194000

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

AU1909304

chr10:
66449504-66449504

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

AU3913303

chr10:
66164132-66164132

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

2-1089-003

chr10:
66395097-66395097

A

G

intergenic

De novo

-

Yuen2017 G

REEP3

2-1475-003

chr10:
65702793-65702793

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU2975302

chr10:
66114045-66114045

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

7-0059-003

chr10:
66514742-66514742

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU2100302

chr10:
66116676-66116676

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

AU2137304

chr10:
65709570-65709570

C

G

intergenic

De novo

-

Yuen2017 G

REEP3

AU3646301

chr10:
66557676-66557676

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

7-0082-003

chr10:
66423155-66423155

A

G

intergenic

De novo

-

Yuen2017 G

REEP3

7-0160-003

chr10:
66532281-66532281

C

G

intergenic

De novo

-

Yuen2017 G

REEP3

1-0044-003

chr10:
65856360-65856360

G

T

intergenic

De novo

-

Yuen2017 G

REEP3

1-0563-003

chr10:
66142215-66142215

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

2-1567-003

chr10:
65314777-65314777

T

A

intronic

De novo

-

Yuen2017 G

REEP3

A11

chr10:
65925959-65925962

TAAA

T

intergenic

De novo

-

Wu2018 G

REEP3

AU1940304

chr10:
65552721-65552721

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

AU2975301

chr10:
66114045-66114045

G

A

intergenic

De novo

-

Yuen2017 G

REEP3

7-0166-003

chr10:
66408550-66408550

A

C

intergenic

De novo

-

Yuen2017 G

REEP3

1-0381-003

chr10:
65494050-65494050

T

G

intergenic

De novo

-

Yuen2017 G

REEP3

1-0203-003

chr10:
65247965-65247965

T

G

intergenic

De novo

-

Yuen2017 G

REEP3

AU4067301

chr10:
65355408-65355408

C

T

intronic

De novo

-

Yuen2017 G

REEP3

2-1094-004

chr10:
65465999-65465999

T

TTGAGCA

intergenic

De novo

-

Yuen2017 G

REEP3

AU017704

chr10:
65866419-65866419

A

T

intergenic

De novo

-

Yuen2017 G

REEP3

1-0203-003

chr10:
65248156-65248156

G

C

intergenic

De novo

-

Yuen2017 G

REEP3

3-0434-000

chr10:
66377696-66377696

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

REEP3

1-0433-003

chr10:
66066808-66066808

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU2951303

chr10:
65456968-65456968

T

C

intergenic

De novo

-

Yuen2017 G

REEP3

3-0307-000

chr10:
66382176-66382176

A

C

intergenic

De novo

-

Yuen2017 G

REEP3

1-0104-004

chr10:
66493404-66493404

G

GA

intergenic

De novo

-

Yuen2017 G

REEP3

AU3761301

chr10:
65608527-65608527

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

2-1738-003

chr10:
65729659-65729659

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

AU3761301

chr10:
66114720-66114720

C

T

intergenic

De novo

-

Yuen2017 G

REEP3

A16

chr10:
66531238-66531238

T

C

intergenic

De novo

-

Wu2018 G

REEP3

2-0090-003

chr10:
65628882-65628882

A

G

intergenic

De novo

-

Yuen2017 G

REEP3

2-1184-003

chr10:
66219349-66219349

G

A

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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