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Results for "CDC7"

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
CDC7     AU3853302chr1:
92092702-92092702
ACintergenicDe novo--Yuen2017 G
CDC7     Bruno2021:XVIIchr1:
91977243-91977243
TGexonicDe novononsynonymous SNVNM_001134419
NM_001134420
NM_003503
c.T425G
c.T425G
c.T425G
p.F142C
p.F142C
p.F142C
21.6-Bruno2021 E
CDC7     2-1137-003chr1:
92135517-92135517
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CDC7     NDAR_INVWL738LDP_wes1chr1:
91973842-91973842
GTexonicDe novononsynonymous SNVNM_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
CDC7     2-1577-003chr1:
92090283-92090283
GAintergenicDe novo--Yuen2017 G
CDC7     2-1391-003chr1:
92119541-92119541
TCintergenicDe novo--Yuen2017 G
CDC7     AU3638302chr1:
92113064-92113064
GCintergenicDe novo--Yuen2017 G
CDC7     AU060703chr1:
92027166-92027168
TCCTCCCintergenicDe novo--Yuen2017 G
CDC7     SP0018795chr1:
91989705-91989705
CGexonicDe novononsynonymous SNVNM_001134419
NM_001134420
NM_003503
c.C1438G
c.C1438G
c.C1438G
p.Q480E
p.Q480E
p.Q480E
12.08-Fu2022 E
CDC7     AU047703chr1:
92101528-92101528
CAintergenicDe novo--Yuen2017 G
CDC7     1-0049-004chr1:
91991185-91991185
TCUTR3De novo--Yuen2017 G
CDC7     2-1617-003chr1:
92010358-92010358
TCintergenicDe novo--Yuen2017 G
CDC7     111299chr1:
91973468-91973468
TGexonicnonsynonymous SNVNM_001134419
NM_001134420
NM_003503
c.T173G
c.T173G
c.T173G
p.F58C
p.F58C
p.F58C
23.1-Woodbury-Smith2022 E
CDC7     1-0763-004chr1:
92026820-92026820
CCAintergenicDe novo--Yuen2017 G
CDC7     2-1239-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
CDC7     AU4013301chr1:
92093517-92093517
AGintergenicDe novo--Yuen2017 G
CDC7     2-1089-003chr1:
91978129-91978129
CTintronicDe 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 notesView
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