Variant Results

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Results for "CDC7"

Variant Events: 19

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

CDC7

AU3853302

chr1:
92092702-92092702

A

C

intergenic

De novo

-

-

Yuen2017 G

CDC7

Bruno2021:XVII

chr1:
91977243-91977243

T

G

exonic

De novo

nonsynonymous SNV

NM_001134419
NM_001134420
NM_003503

c.T425G
c.T425G
c.T425G

p.F142C
p.F142C
p.F142C

21.6

-

Bruno2021 E

CDC7

2-1137-003

chr1:
92135517-92135517

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CDC7

NDAR_INVWL738LDP_wes1

chr1:
91973842-91973842

G

T

exonic

De novo

nonsynonymous SNV

NM_001134419
NM_001134420
NM_003503

c.G223T
c.G223T
c.G223T

p.A75S
p.A75S
p.A75S

34.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CDC7

2-1577-003

chr1:
92090283-92090283

G

A

intergenic

De novo

-

-

Yuen2017 G

CDC7

2-1391-003

chr1:
92119541-92119541

T

C

intergenic

De novo

-

-

Yuen2017 G

CDC7

AU3638302

chr1:
92113064-92113064

G

C

intergenic

De novo

-

-

Yuen2017 G

CDC7

AU060703

chr1:
92027166-92027168

TCC

TCCC

intergenic

De novo

-

-

Yuen2017 G

CDC7

SP0018795

chr1:
91989705-91989705

C

G

exonic

De novo

nonsynonymous SNV

NM_001134419
NM_001134420
NM_003503

c.C1438G
c.C1438G
c.C1438G

p.Q480E
p.Q480E
p.Q480E

12.08

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CDC7

AU047703

chr1:
92101528-92101528

C

A

intergenic

De novo

-

-

Yuen2017 G

CDC7

1-0049-004

chr1:
91991185-91991185

T

C

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

CDC7

2-1617-003

chr1:
92010358-92010358

T

C

intergenic

De novo

-

-

Yuen2017 G

CDC7

111299

chr1:
91973468-91973468

T

G

exonic

nonsynonymous SNV

NM_001134419
NM_001134420
NM_003503

c.T173G
c.T173G
c.T173G

p.F58C
p.F58C
p.F58C

23.1

-

Woodbury-Smith2022 E

CDC7

1-0763-004

chr1:
92026820-92026820

C

CA

intergenic

De novo

-

-

Yuen2017 G

CDC7

2-1239-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

CDC7

AU4013301

chr1:
92093517-92093517

A

G

intergenic

De novo

-

-

Yuen2017 G

CDC7

SJD_27.3

chr1:
91971768-91971768

T

G

intronic

De novo

-

-

Trost2022 G

CDC7

2-1089-003

chr1:
91978129-91978129

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC7

7-0198-003

chr1:
91971003-91971003

C

T

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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