Variant Results

or

Results for "CENPE"

Variant Events: 27

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

CENPE

AU4028302

chr4:
104213656-104213656

C

T

intergenic

De novo

-

Yuen2017 G

CENPE

1-0373-003

chr4:
104196062-104196062

T

A

intergenic

De novo

-

Yuen2017 G

CENPE

AU2787301

chr4:
104189555-104189555

G

A

intergenic

De novo

-

Yuen2017 G

CENPE

AU079204

chr4:
104193258-104193259

AG

A

intergenic

De novo

-

Yuen2017 G

CENPE

AU018010

chr4:
104162772-104162772

C

T

intergenic

De novo

-

Yuen2017 G

CENPE

AU3057301

chr4:
104182608-104182608

A

C

intergenic

De novo

-

Yuen2017 G

CENPE

2-1345-003

chr4:
104112062-104112062

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CENPE

09C82619

chr4:
104062184-104062184

A

G

exonic

De novo

synonymous SNV

NM_001286734
NM_001813

c.T5466C
c.T5541C

p.S1822S
p.S1847S

-

Fu2022 E

CENPE

1-0380-003

chr4:
104196062-104196062

T

A

intergenic

De novo

-

Yuen2017 G

CENPE

2-1594-003

chr4:
104027750-104027750

G

A

intronic

De novo

-

Yuen2017 G

CENPE

11057.p1

chr4:
104066794-104066794

C

T

exonic

Mosaic

synonymous SNV

NM_001286734
NM_001813

c.G4383A
c.G4458A

p.L1461L
p.L1486L

-

Krupp2017 E

CENPE

SP0086991

chr4:
104057330-104057330

T

C

exonic

De novo

nonsynonymous SNV

NM_001286734
NM_001813

c.A6127G
c.A6490G

p.M2043V
p.M2164V

4.461

1.649E-5

Antaki2022 GE
Fu2022 E

CENPE

1-0296-003

chr4:
104256947-104256947

C

T

intergenic

De novo

-

Yuen2017 G

CENPE

SP0109268

chr4:
104067113-104067115

CTT

C

exonic

De novo

frameshift deletion

NM_001286734
NM_001813

c.4209_4210del
c.4284_4285del

p.K1403fs
p.K1428fs

-

Antaki2022 GE
Fu2022 E

CENPE

AU050604

chr4:
104196131-104196131

A

T

intergenic

De novo

-

Yuen2017 G

CENPE

2-1303-003

chr4:
104174914-104174914

G

A

intergenic

De novo

-

Yuen2017 G

CENPE

iHART2291

chr4:
104067180-104067180

C

A

exonic

Paternal

stopgain

NM_001286734
NM_001813

c.G4144T
c.G4219T

p.E1382X
p.E1407X

43.0

-

Ruzzo2019 G

CENPE

iHART1192

chr4:
104061163-104061163

A

AT

exonic

Paternal

frameshift insertion

NM_001813

c.5986dupA

p.I1996fs

-

8.466E-6

Ruzzo2019 G

CENPE

13437.p1

chr4:
104115348-104115348

G

A

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

CENPE

Cukier2014:17678

chr4:
104080217-104080217

A

C

exonic

Unknown

nonsynonymous SNV

NM_001286734
NM_001813

c.T2476G
c.T2551G

p.S826A
p.S851A

11.57

0.0048

Cukier2014 E

CENPE

1-0138-003

chr4:
104328419-104328419

A

G

intergenic

De novo

-

Yuen2017 G

CENPE

5-0110-003

chr4:
104221285-104221285

T

C

intergenic

De novo

-

Yuen2017 G

CENPE

AU034903

chr4:
104200421-104200421

C

A

intergenic

De novo

-

Yuen2017 G

CENPE

2-1132-003

chr4:
104123438-104123443

ATAGAG

A

intergenic

De novo

-

Yuen2017 G

CENPE

AU4032305

chr4:
104302383-104302383

G

T

intergenic

De novo

-

Yuen2017 G

CENPE

2-1160-003

chr4:
104101890-104101890

C

A

intronic

De novo

-

Yuen2016 G

CENPE

AU3885305

chr4:
104065558-104065558

C

G

exonic

De novo

nonsynonymous SNV

NM_001286734
NM_001813

c.G5000C
c.G5075C

p.R1667T
p.R1692T

5.059

-

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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