Variant Results

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Results for "CENPJ"

Variant Events: 17

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

CENPJ

Li2017:19646

chr13:
25480856-25480856

C

CAA

exonic

Unknown

frameshift insertion

NM_018451

c.1319_1320insTT

p.K440fs

-

-

Li2017 T

CENPJ

AU073003

chr13:
25458853-25458853

T

C

intronic

De novo

-

-

Yuen2017 G

CENPJ

1-0372-003

chr13:
25486801-25486801

G

C

exonic

De novo

nonsynonymous SNV

NM_018451

c.C363G

p.N121K

5.539

-

Yuen2016 G
Yuen2017 G

CENPJ

2-1239-003

chr13:
25488179-25488193

GACACACACACACAC

GACACACACACAC

intronic

De novo

-

-

Yuen2017 G

CENPJ

74-0765

chr13:
25487103-25487103

T

A

exonic

Inherited

nonsynonymous SNV

NM_018451

c.A61T

p.M21L

23.4

Patowary2019 E

CENPJ

A2

chr13:
25466563-25466563

C

A

intronic

De novo

-

-

Wu2018 G

CENPJ

152-HSC0079

chr13:
25487103-25487103

T

A

exonic

Inherited

nonsynonymous SNV

NM_018451

c.A61T

p.M21L

23.4

Patowary2019 E

CENPJ

5-0014-003

chr13:
25479316-25479316

G

C

intronic

De novo

-

-

Yuen2017 G

CENPJ

AU043804

chr13:
25469925-25469925

A

C

intronic

De novo

-

-

Yuen2017 G

CENPJ

iHART2622

chr13:
25478198-25478198

T

A

splicing

Maternal

splicing

16.61

-

Ruzzo2019 G

CENPJ

iHART2623

chr13:
25478198-25478198

T

A

splicing

Maternal

splicing

16.61

-

Ruzzo2019 G

CENPJ

5-0109-003

chr13:
25455886-25455886

A

C

downstream

De novo

-

-

Yuen2017 G

CENPJ

2-1275-003

chr13:
25460859-25460859

T

C

intronic

De novo

-

-

Yuen2017 G

CENPJ

10C109030

chr13:
25486801-25486801

G

C

exonic

De novo

nonsynonymous SNV

NM_018451

c.C363G

p.N121K

5.539

-

Fu2022 E
Satterstrom2020 E

CENPJ

Li2017:20632

chr13:
25486753-25486754

AG

A

exonic

Unknown

frameshift deletion

NM_018451

c.410delC

p.A137fs

-

-

Li2017 T

CENPJ

Li2017:10

chr13:
25480954-25480955

CG

C

exonic

Unknown

frameshift deletion

NM_018451

c.1221delC

p.S407fs

-

-

Li2017 T

CENPJ

iHART2912

chr13:
25480590-25480590

G

C

exonic

Maternal

stopgain

NM_018451

c.C1586G

p.S529X

17.25

Ruzzo2019 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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