Variant Results

or

Results for "CDCA7"

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

CDCA7

1-0380-003

chr2:
174634444-174634444

G

A

intergenic

De novo

-

Yuen2017 G

CDCA7

AU3371301

chr2:
174658064-174658064

A

G

intergenic

De novo

-

Yuen2017 G

CDCA7

AU3955303

chr2:
174188395-174188395

A

C

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1506-003

chr2:
174485008-174485008

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

1-0669-003

chr2:
174255528-174255532

GAAAA

GAAA

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1142-003

chr2:
174190963-174190963

T

C

intergenic

De novo

-

Yuen2017 G

CDCA7

1-0201-005

chr2:
174638954-174638954

G

A

intergenic

De novo

-

Yuen2017 G

CDCA7

AU061104

chr2:
174586760-174586760

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

A26

chr2:
174441961-174441961

C

T

intergenic

De novo

-

Wu2018 G

CDCA7

1-0972-003

chr2:
174655864-174655864

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

10-1155-004

chr2:
174225779-174225779

T

C

intronic

De novo

-

Trost2022 G

CDCA7

7-0252-003

chr2:
174219306-174219306

C

T

upstream

De novo

-

Trost2022 G

CDCA7

MT_78.3

chr2:
174224562-174224562

G

T

intronic

De novo

-

Trost2022 G

CDCA7

2-1736-003

chr2:
174295403-174295403

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1402-003

chr2:
174261887-174261887

A

G

intergenic

De novo

-

Yuen2017 G

CDCA7

AU4273304

chr2:
174394751-174394751

A

G

intergenic

De novo

-

Yuen2017 G

CDCA7

1-0054-004

chr2:
174753800-174753800

G

A

intergenic

De novo

-

Yuen2017 G

CDCA7

AU4168306

chr2:
174530328-174530328

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1278-003

chr2:
174357033-174357033

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDCA7

1-0120-003

chr2:
174284137-174284137

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

7-0035-003

chr2:
174507825-174507825

A

G

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1426-003

chr2:
174751321-174751326

TATGAT

TAT

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1430-003

chr2:
174738283-174738283

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDCA7

AU3881302

chr2:
174154931-174154931

G

A

intergenic

De novo

-

Yuen2017 G

CDCA7

AU3847302

chr2:
174741786-174741786

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

AU4433301

chr2:
174302283-174302283

G

A

intergenic

De novo

-

Yuen2017 G

CDCA7

AU3808305

chr2:
174224194-174224194

C

CA

exonic

Paternal

frameshift insertion

NM_031942

c.360dupA

p.S120fs

-

Cirnigliaro2023 G

CDCA7

AU3808304

chr2:
174224194-174224194

C

CA

exonic

Paternal

frameshift insertion

NM_031942

c.360dupA

p.S120fs

-

Cirnigliaro2023 G

CDCA7

74-0115

chr2:
174683396-174683396

G

A

intergenic

De novo

-

Michaelson2012 G

CDCA7

mAGRE3114

chr2:
174223439-174223439

G

A

splicing

Paternal

splicing

11.62

8.33E-6

Cirnigliaro2023 G

CDCA7

iHART3114

chr2:
174223439-174223439

G

A

splicing

Paternal

splicing

11.62

8.33E-6

Ruzzo2019 G

CDCA7

AU058105

chr2:
174747542-174747542

A

G

intergenic

De novo

-

Yuen2017 G

CDCA7

1-0203-003

chr2:
174627734-174627734

G

GGAAAA

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1591-003

chr2:
174245369-174245369

A

G

intergenic

De novo

-

Yuen2017 G

CDCA7

AU2129301

chr2:
174331743-174331743

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

AU4032305

chr2:
174665061-174665061

C

T

intergenic

De novo

-

Yuen2017 G

CDCA7

1-0606-003

chr2:
174684349-174684349

G

A

intergenic

De novo

-

Yuen2017 G

CDCA7

2-1188-003

chr2:
174430416-174430416

C

G

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
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