Variant Results

or

or

Results for "CCBE1"

Variant Events: 32

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

CCBE1

2-0088-003

chr18:
57297601-57297601

G

A

intronic

De novo

-

-

Yuen2017 G

CCBE1

1-0354-006

chr18:
57252158-57252158

A

T

intronic

De novo

-

-

Yuen2017 G

CCBE1

AU4235302

chr18:
57340806-57340806

A

G

intronic

De novo

-

-

Yuen2017 G

CCBE1

iHART1357

chr18:
57103167-57103167

C

CA

exonic

Maternal

frameshift insertion

NM_133459

c.1193dupT

p.L398fs

-

-

Ruzzo2019 G

CCBE1

iHART1356

chr18:
57103167-57103167

C

CA

exonic

Maternal

frameshift insertion

NM_133459

c.1193dupT

p.L398fs

-

-

Ruzzo2019 G

CCBE1

SP0045565

chr18:
57363976-57363976

A

C

intronic

De novo

-

-

Fu2022 E

CCBE1

AU4237304

chr18:
57259044-57259044

G

A

intronic

De novo

-

-

Yuen2017 G

CCBE1

SP0097973

chr18:
57107077-57107077

A

C

intronic

De novo

-

-

Fu2022 E

CCBE1

2-0309-004

chr18:
57141112-57141112

T

TATTTCCTCC

intronic

De novo

-

-

Yuen2017 G

CCBE1

AU3853302

chr18:
57496070-57496070

G

A

intergenic

De novo

-

-

Yuen2017 G

CCBE1

AU4231301

chr18:
57333856-57333856

G

A

intronic

De novo

-

-

Yuen2017 G

CCBE1

09C92999

chr18:
57136822-57136822

C

T

exonic

De novo

nonsynonymous SNV

NM_133459

c.G283A

p.E95K

13.81

Fu2022 E
Satterstrom2020 E

CCBE1

1-0459-003

chr18:
57200972-57200972

A

G

intronic

De novo

-

-

Yuen2017 G

CCBE1

5-0111-003

chr18:
57550267-57550267

G

C

intergenic

De novo

-

-

Yuen2017 G

CCBE1

2-1562-003

chr18:
57144172-57144172

T

A

intronic

De novo

-

-

Yuen2017 G

CCBE1

7-0119-003

chr18:
57215296-57215296

G

A

intronic

De novo

-

-

Yuen2017 G

CCBE1

3-0431-000

chr18:
57179929-57179929

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CCBE1

1-0539-003

chr18:
57448785-57448785

G

GAGGTC

intergenic

De novo

-

-

Yuen2017 G

CCBE1

7-0250-003

chr18:
57375125-57375125

C

T

intergenic

De novo

-

-

Yuen2017 G

CCBE1

AU2215302

chr18:
57144927-57144927

A

G

intronic

De novo

-

-

Yuen2017 G

CCBE1

1-0991-003

chr18:
57104242-57104248

TTAAAAT

TT

intronic

De novo

-

-

Yuen2017 G

CCBE1

AU4007301

chr18:
57394984-57394984

A

C

intergenic

De novo

-

-

Yuen2017 G

CCBE1

1-0045-004

chr18:
57414768-57414768

C

A

intergenic

De novo

-

-

Yuen2017 G

CCBE1

1-0443-003

chr18:
57102882-57102882

G

A

UTR3

De novo

-

-

Yuen2016 G

CCBE1

PN400117

chr18:
57363910-57363910

T

C

exonic

De novo

nonsynonymous SNV

NM_133459

c.A163G

p.T55A

17.84

-

Leblond2019 E

CCBE1

AU3811305

chr18:
57371708-57371708

A

G

intergenic

De novo

-

-

Yuen2017 G

CCBE1

AU024105

chr18:
57554610-57554612

ACC

AC

intergenic

De novo

-

-

Yuen2017 G

CCBE1

7-0129-003

chr18:
57131628-57131628

C

G

intronic

De novo

-

-

Yuen2017 G

CCBE1

AU1795303

chr18:
57125790-57125790

G

A

intronic

De novo

-

-

Yuen2017 G

CCBE1

1-0067-004

chr18:
57149375-57149375

C

T

intronic

De novo

-

-

Yuen2017 G

CCBE1

2-1140-003

chr18:
57214600-57214600

G

A

intronic

De novo

-

-

Yuen2017 G

CCBE1

AU3076302

chr18:
57432244-57432244

G

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
	More