Variant Results

or

Results for "CDCA2"

Variant Events: 38

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

CDCA2

AU2410301

chr8:
25604712-25604712

T

C

intergenic

De novo

-

Yuen2017 G

CDCA2

1-0184-003

chr8:
25529245-25529245

G

T

intergenic

De novo

-

Yuen2017 G

CDCA2

1-0054-004

chr8:
25478829-25478829

G

A

intergenic

De novo

-

Yuen2017 G

CDCA2

2-1526-004

chr8:
25325336-25325336

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDCA2

1-0257-003

chr8:
25670004-25670004

G

A

intergenic

De novo

-

Yuen2017 G

CDCA2

AU074503

chr8:
25659671-25659671

G

A

intergenic

De novo

-

Yuen2017 G

CDCA2

2-1131-003

chr8:
25656729-25656729

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDCA2

2-0019-004

chr8:
25405506-25405506

T

TGC

intergenic

De novo

-

Yuen2017 G

CDCA2

2-0149-004

chr8:
25432665-25432665

G

T

intergenic

De novo

-

Yuen2017 G

CDCA2

PN400587

chr8:
25323820-25323820

G

A

exonic

De novo

nonsynonymous SNV

NM_152562

c.G517A

p.E173K

13.15

-

Leblond2019 E

CDCA2

7-0254-004

chr8:
25456682-25456689

ACTCCTCC

ACTCC

intergenic

De novo

-

Yuen2017 G

CDCA2

AU4028302

chr8:
25545866-25545866

C

T

intergenic

De novo

-

Yuen2017 G

CDCA2

iHART2351

chr8:
25360911-25360916

AGAAAG

A

exonic

Maternal

frameshift deletion

NM_152562

c.1695_1699del

p.K565fs

-

6.703E-5

Ruzzo2019 G

CDCA2

iHART1606

chr8:
25323689-25323689

A

G

splicing

Maternal

splicing

15.84

8.248E-6

Ruzzo2019 G

CDCA2

AU3900302

chr8:
25570175-25570175

C

T

intergenic

De novo

-

Yuen2017 G

CDCA2

7-0452-003

chr8:
25325752-25325752

C

T

exonic

De novo

synonymous SNV

NM_152562

c.C558T

p.S186S

-

1.663E-5

Trost2022 G
Zhou2022 GE

CDCA2

A18

chr8:
25573760-25573760

A

G

intergenic

De novo

-

Wu2018 G

CDCA2

1-0406-003

chr8:
25509484-25509488

TAATC

T

intergenic

De novo

-

Yuen2017 G

CDCA2

2-1380-003

chr8:
25398515-25398515

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDCA2

2-1231-003

chr8:
25405274-25405280

AATTATT

A

intergenic

De novo

-

Yuen2016 G

CDCA2

1-0541-004

chr8:
25318502-25318502

G

T

intronic

De novo

-

Yuen2017 G

CDCA2

11117.p1

chr8:
25364646-25364646

G

T

exonic

Mosaic Pat.

nonsynonymous SNV

NM_152562

c.G2464T

p.V822L

5.995

-

Dou2017 E

CDCA2

2-1250-003

chr8:
25531130-25531130

G

T

intergenic

De novo

-

Yuen2017 G

CDCA2

1-0059-003

chr8:
25542217-25542217

G

A

intergenic

De novo

-

Yuen2017 G

CDCA2

2-0244-003

chr8:
25320060-25320064

TGAAC

CCAGT

intronic

De novo

-

Trost2022 G

CDCA2

2-1169-004

chr8:
25648304-25648310

ACTGATT

A

intergenic

De novo

-

Yuen2017 G

CDCA2

SJD_61.3

chr8:
25328500-25328500

A

G

intronic

De novo

-

Trost2022 G

CDCA2

mAGRE2351

chr8:
25360911-25360916

AGAAAG

A

exonic

Maternal

frameshift deletion

NM_152562

c.1695_1699del

p.K565fs

-

6.703E-5

Cirnigliaro2023 G

CDCA2

mAGRE6017

chr8:
25340932-25340934

CTA

C

exonic

Paternal

frameshift deletion

NM_152562

c.1051_1052del

p.Y351fs

-

Cirnigliaro2023 G

CDCA2

09C80147

chr8:
25317876-25317876

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CDCA2

3-0063-000

chr8:
25320058-25320064

CTTGAAC

TTCCAGT

intronic

De novo

-

Trost2022 G

CDCA2

mAGRE1606

chr8:
25323689-25323689

A

G

splicing

Maternal

splicing

15.84

8.248E-6

Cirnigliaro2023 G

CDCA2

1-0495-003

chr8:
25641606-25641606

A

C

intergenic

De novo

-

Yuen2017 G

CDCA2

2-1177-003

chr8:
25396280-25396280

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDCA2

2-1177-003

chr8:
25638283-25638283

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDCA2

SP0012778

chr8:
25323858-25323858

C

A

intronic

De novo

-

Fu2022 E

CDCA2

SP0088564

chr8:
25341670-25341670

T

A

exonic

De novo

nonsynonymous SNV

NM_152562

c.T1309A

p.S437T

17.16

8.238E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

CDCA2

5-0022-003

chr8:
25357987-25357987

T

G

intronic

De novo

-

Trost2022 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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