Variant Results

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Results for "CDCA7L"

Variant Events: 24

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

CDCA7L

09C96222

chr7:
21947980-21947980

G

A

exonic

De novo

nonsynonymous SNV

NM_001127371
NM_018719
NM_001127370

c.C311T
c.C449T
c.C347T

p.T104I
p.T150I
p.T116I

21.0

-

DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E

CDCA7L

1-0871-003

chr7:
22074374-22074374

G

C

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

AU3716301

chr7:
22041362-22041362

G

A

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

AU3907301

chr7:
22010215-22010215

G

A

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

2-1308-003

chr7:
22066089-22066089

A

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CDCA7L

AU2129301

chr7:
21988717-21988717

A

G

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

2-0145-004

chr7:
21941995-21941995

G

GGTAAA

intronic

De novo

-

Yuen2017 G

CDCA7L

1-0669-003

chr7:
21957123-21957123

A

G

intronic

De novo

-

-

Yuen2017 G

CDCA7L

1-0518-003

chr7:
21940997-21940997

C

T

UTR3

De novo

-

-

Yuen2017 G

CDCA7L

2-0003-004

chr7:
21981547-21981547

C

G

intronic

De novo

-

-

Yuen2017 G

CDCA7L

2-1605-004

chr7:
22053433-22053433

C

A

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

AU4069301

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

CDCA7L

AU4089301

chr7:
21990455-21990455

T

A

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

AU046708

chr7:
22128190-22128190

G

A

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

2-1376-003

chr7:
22071413-22071413

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CDCA7L

1-0215-006

chr7:
22117612-22117612

A

T

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

AU3808305

chr7:
22034534-22034534

G

A

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

14106.p1

chr7:
21940922-21940922

C

CT

UTR3

De novo

-

Satterstrom2020 E

CDCA7L

1-0022-004

chr7:
22109542-22109545

CAAA

CAAAA

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

AU3839303

chr7:
21968299-21968299

A

G

intronic

De novo

-

-

Yuen2017 G

CDCA7L

AU4176302

chr7:
22144442-22144442

A

T

intergenic

De novo

-

-

Yuen2017 G

CDCA7L

2-1406-003

chr7:
22131432-22131432

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CDCA7L

2-1646-003

chr7:
21953532-21953532

G

A

intronic

De novo

-

-

Yuen2017 G

CDCA7L

AU4379301

chr7:
22085073-22085073

T

A

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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