Variant Results

or

Results for "CNBD1"

Variant Events: 52

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

CNBD1

AU3865301

chr8:
88221217-88221217

G

A

intronic

De novo

-

Yuen2017 G

CNBD1

2-1722-003

chr8:
88130975-88130975

T

A

intronic

De novo

-

Yuen2017 G

CNBD1

AU0452304

chr8:
88543582-88543582

A

C

intergenic

De novo

-

Yuen2017 G

CNBD1

2-0018-004

chr8:
88688547-88688547

A

G

intergenic

De novo

-

Yuen2017 G

CNBD1

2-1376-003

chr8:
88341339-88341339

G

A

intronic

De novo

-

Yuen2017 G

CNBD1

1-0028-003

chr8:
88213861-88213862

AC

A

intronic

De novo

-

Yuen2017 G

CNBD1

1-0871-003

chr8:
88255922-88255922

G

C

intronic

De novo

-

Yuen2017 G

CNBD1

2-0244-003

chr8:
88857463-88857463

T

C

intergenic

De novo

-

Yuen2017 G

CNBD1

A28

chr8:
88513244-88513244

C

T

intergenic

De novo

-

Wu2018 G

CNBD1

AU0780301

chr8:
88023909-88023914

CATTAT

CAT

intronic

De novo

-

Yuen2017 G

CNBD1

2-0264-004

chr8:
88298963-88298963

T

C

intronic

De novo

-

Yuen2017 G

CNBD1

AU3648301

chr8:
87903531-87903531

G

A

intronic

De novo

-

Yuen2017 G

CNBD1

2-0022-003

chr8:
88457796-88457796

A

G

intergenic

De novo

-

Yuen2017 G

CNBD1

AU045514

chr8:
88324289-88324289

T

G

intronic

De novo

-

Yuen2017 G

CNBD1

2-1452-003

chr8:
88489752-88489752

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNBD1

1-0218-003

chr8:
88785607-88785607

A

G

intergenic

De novo

-

Yuen2017 G

CNBD1

AU3760302

chr8:
87928502-87928502

G

A

intronic

De novo

-

Yuen2017 G

CNBD1

SP0051880

chr8:
88365965-88365965

T

C

exonic

De novo

synonymous SNV

NM_173538

c.T1254C

p.I418I

0.269

-

Fu2022 E

CNBD1

3-0246-000

chr8:
88705032-88705032

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNBD1

AU4199303

chr8:
88455092-88455092

A

G

intergenic

De novo

-

Yuen2017 G

CNBD1

2-1066-004

chr8:
88290280-88290280

C

A

intronic

De novo

-

Yuen2017 G

CNBD1

7-0023-003

chr8:
88102871-88102871

A

T

intronic

De novo

-

Yuen2017 G

CNBD1

AU4129303

chr8:
88556842-88556842

T

G

intergenic

De novo

-

Yuen2017 G

CNBD1

1-0834-003

chr8:
88763990-88763990

C

T

intergenic

De novo

-

Yuen2017 G

CNBD1

Shi2013:1

chr8:
88218368-88218368

T

C

splicing

Inherited

splicing

12.05

6.076E-5

Shi2013 G

CNBD1

1-0777-003

chr8:
87906397-87906397

C

G

intronic

De novo

-

Yuen2017 G

CNBD1

AU011704

chr8:
88533560-88533560

A

G

intergenic

De novo

-

Yuen2017 G

CNBD1

7-0247-003

chr8:
88654792-88654792

T

C

intergenic

De novo

-

Yuen2017 G

CNBD1

5-0061-003

chr8:
88075816-88075816

G

A

intronic

De novo

-

Yuen2017 G

CNBD1

AU3727303

chr8:
88431119-88431119

T

G

intergenic

De novo

-

Yuen2017 G

CNBD1

AU3874303

chr8:
88537769-88537770

AC

A

intergenic

De novo

-

Yuen2017 G

CNBD1

AU4093301

chr8:
88069482-88069482

G

A

intronic

De novo

-

Yuen2017 G

CNBD1

AU4033304

chr8:
88562880-88562880

G

A

intergenic

De novo

-

Yuen2017 G

CNBD1

1-0032-003

chr8:
88578986-88578989

CTCT

C

intergenic

De novo

-

Yuen2017 G

CNBD1

1-0289-003

chr8:
88679410-88679410

G

T

intergenic

De novo

-

Yuen2017 G

CNBD1

AU4212303

chr8:
88289700-88289700

C

T

intronic

De novo

-

Yuen2017 G

CNBD1

1-0381-003

chr8:
88574972-88574972

G

T

intergenic

De novo

-

Yuen2017 G

CNBD1

1-0935-003

chr8:
88288446-88288446

A

G

intronic

De novo

-

Yuen2017 G

CNBD1

AU3057302

chr8:
88760620-88760620

G

A

intergenic

De novo

-

Yuen2017 G

CNBD1

2-0286-003

chr8:
87907920-87907920

G

C

intronic

De novo

-

Yuen2017 G

CNBD1

AU4231301

chr8:
88339694-88339694

C

T

intronic

De novo

-

Yuen2017 G

CNBD1

1-0345-003

chr8:
88148420-88148420

T

G

intronic

De novo

-

Yuen2017 G

CNBD1

AU026412

chr8:
88365176-88365176

T

G

intronic

De novo

-

Yuen2017 G

CNBD1

2-1529-003

chr8:
87990480-87990480

A

G

intronic

De novo

-

Yuen2017 G

CNBD1

1-0985-003

chr8:
88848585-88848585

C

T

intergenic

De novo

-

Yuen2017 G

CNBD1

2-1382-003

chr8:
88723039-88723039

G

A

intergenic

De novo

-

Yuen2016 G

CNBD1

2-1497-003

chr8:
88422662-88422662

T

G

intergenic

De novo

-

Yuen2017 G

CNBD1

Shi2013:2

chr8:
88218368-88218368

T

C

splicing

Inherited

splicing

12.05

6.076E-5

Shi2013 G

CNBD1

AU3874302

chr8:
88338885-88338885

G

T

intronic

De novo

-

Yuen2017 G

CNBD1

74-0352

chr8:
88205378-88205378

G

A

intronic

De novo

-

Michaelson2012 G

CNBD1

74-0117

chr8:
88533560-88533560

A

G

intergenic

De novo

-

Michaelson2012 G

CNBD1

13543.p1

chr8:
88443020-88443020

G

A

intergenic

De novo

-

Turner2016 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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