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Results for "CDCA7"

Variant Events: 32

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     1-0380-003chr2:
174634444-174634444
GAintergenicDe novo--Yuen2017 G
CDCA7     AU3371301chr2:
174658064-174658064
AGintergenicDe novo--Yuen2017 G
CDCA7     AU3955303chr2:
174188395-174188395
ACintergenicDe novo--Yuen2017 G
CDCA7     2-1506-003chr2:
174485008-174485008
CTintergenicDe novo--Yuen2017 G
CDCA7     1-0669-003chr2:
174255528-174255532
GAAAAGAAAintergenicDe novo--Yuen2017 G
CDCA7     2-1142-003chr2:
174190963-174190963
TCintergenicDe novo--Yuen2017 G
CDCA7     1-0201-005chr2:
174638954-174638954
GAintergenicDe novo--Yuen2017 G
CDCA7     AU061104chr2:
174586760-174586760
CTintergenicDe novo--Yuen2017 G
CDCA7     A26chr2:
174441961-174441961
CTintergenicDe novo--Wu2018 G
CDCA7     1-0972-003chr2:
174655864-174655864
CTintergenicDe novo--Yuen2017 G
CDCA7     2-1736-003chr2:
174295403-174295403
CTintergenicDe novo--Yuen2017 G
CDCA7     2-1402-003chr2:
174261887-174261887
AGintergenicDe novo--Yuen2017 G
CDCA7     AU4273304chr2:
174394751-174394751
AGintergenicDe novo--Yuen2017 G
CDCA7     1-0054-004chr2:
174753800-174753800
GAintergenicDe novo--Yuen2017 G
CDCA7     AU4168306chr2:
174530328-174530328
CTintergenicDe novo--Yuen2017 G
CDCA7     2-1278-003chr2:
174357033-174357033
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA7     1-0120-003chr2:
174284137-174284137
CTintergenicDe novo--Yuen2017 G
CDCA7     7-0035-003chr2:
174507825-174507825
AGintergenicDe novo--Yuen2017 G
CDCA7     2-1426-003chr2:
174751321-174751326
TATGATTATintergenicDe novo--Yuen2017 G
CDCA7     2-1430-003chr2:
174738283-174738283
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA7     AU3881302chr2:
174154931-174154931
GAintergenicDe novo--Yuen2017 G
CDCA7     AU3847302chr2:
174741786-174741786
CTintergenicDe novo--Yuen2017 G
CDCA7     AU4433301chr2:
174302283-174302283
GAintergenicDe novo--Yuen2017 G
CDCA7     74-0115chr2:
174683396-174683396
GAintergenicDe novo--Michaelson2012 G
CDCA7     iHART3114chr2:
174223439-174223439
GAsplicingPaternalsplicing11.628.33E-6Ruzzo2019 G
CDCA7     AU058105chr2:
174747542-174747542
AGintergenicDe novo--Yuen2017 G
CDCA7     1-0203-003chr2:
174627734-174627734
GGGAAAAintergenicDe novo--Yuen2017 G
CDCA7     2-1591-003chr2:
174245369-174245369
AGintergenicDe novo--Yuen2017 G
CDCA7     AU2129301chr2:
174331743-174331743
CTintergenicDe novo--Yuen2017 G
CDCA7     AU4032305chr2:
174665061-174665061
CTintergenicDe novo--Yuen2017 G
CDCA7     1-0606-003chr2:
174684349-174684349
GAintergenicDe novo--Yuen2017 G
CDCA7     2-1188-003chr2:
174430416-174430416
CGintergenicDe 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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