Variant Results

or

or

Results for "CLYBL"

Variant Events: 16

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

CLYBL

Cukier2014:17122

chr13:
100425097-100425097

G

T

exonic

Unknown

nonsynonymous SNV

NM_206808

c.G82T

p.D28Y

12.73

Cukier2014 E

CLYBL

AU015903

chr13:
100274775-100274775

C

T

intronic

De novo

-

-

Yuen2017 G

CLYBL

23.s1

chr13:
100425084-100425084

G

A

exonic

De novo

synonymous SNV

NM_206808

c.G69A

p.A23A

-

An2014 E

CLYBL

1-0359-003

chr13:
100287408-100287408

G

A

intronic

De novo

-

-

Yuen2017 G

CLYBL

AU073005

chr13:
100361526-100361526

C

T

intronic

De novo

-

-

Yuen2017 G

CLYBL

2-1228-003

chr13:
100275309-100275309

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CLYBL

iHART1894

chr13:
100518538-100518538

C

T

exonic

Maternal

stopgain

NM_206808

c.C679T

p.Q227X

38.0

-

Ruzzo2019 G

CLYBL

iHART1891

chr13:
100518538-100518538

C

T

exonic

Maternal

stopgain

NM_206808

c.C679T

p.Q227X

38.0

-

Ruzzo2019 G

CLYBL

AU3951302

chr13:
100371782-100371782

C

T

intronic

De novo

-

-

Yuen2017 G

CLYBL

A5

chr13:
100330101-100330101

T

G

intronic

De novo

-

-

Wu2018 G

CLYBL

2-1430-003

chr13:
100288006-100288006

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CLYBL

08C78818

chr13:
100258954-100258954

C

T

exonic

De novo

nonsynonymous SNV

NM_206808

c.C5T

p.A2V

13.68

-

Fu2022 E
Satterstrom2020 E

CLYBL

AU4356302

chr13:
100299279-100299279

C

T

intronic

De novo

-

-

Yuen2017 G

CLYBL

AU2495301

chr13:
100352342-100352342

A

G

intronic

De novo

-

-

Yuen2017 G

CLYBL

SP0010005

chr13:
100258956-100258956

C

G

exonic

De novo

nonsynonymous SNV

NM_206808

c.C7G

p.L3V

13.21

Fu2022 E

CLYBL

AU2140306

chr13:
100269240-100269240

A

G

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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