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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     09C96222chr7:
21947980-21947980
GAexonicDe novononsynonymous SNVNM_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     1-0871-003chr7:
22074374-22074374
GCintergenicDe novo--Yuen2017 G
CDCA7L     AU3716301chr7:
22041362-22041362
GAintergenicDe novo--Yuen2017 G
CDCA7L     AU3907301chr7:
22010215-22010215
GAintergenicDe novo--Yuen2017 G
CDCA7L     2-1308-003chr7:
22066089-22066089
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA7L     AU2129301chr7:
21988717-21988717
AGintergenicDe novo--Yuen2017 G
CDCA7L     2-0145-004chr7:
21941995-21941995
GGGTAAAintronicDe novo-0.0023Yuen2017 G
CDCA7L     1-0669-003chr7:
21957123-21957123
AGintronicDe novo--Yuen2017 G
CDCA7L     1-0518-003chr7:
21940997-21940997
CTUTR3De novo--Yuen2017 G
CDCA7L     2-0003-004chr7:
21981547-21981547
CGintronicDe novo--Yuen2017 G
CDCA7L     2-1605-004chr7:
22053433-22053433
CAintergenicDe novo--Yuen2017 G
CDCA7L     AU4069301 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CDCA7L     AU4089301chr7:
21990455-21990455
TAintergenicDe novo--Yuen2017 G
CDCA7L     AU046708chr7:
22128190-22128190
GAintergenicDe novo--Yuen2017 G
CDCA7L     2-1376-003chr7:
22071413-22071413
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA7L     1-0215-006chr7:
22117612-22117612
ATintergenicDe novo--Yuen2017 G
CDCA7L     AU3808305chr7:
22034534-22034534
GAintergenicDe novo--Yuen2017 G
CDCA7L     14106.p1chr7:
21940922-21940922
CCTUTR3De novo-8.092E-5Satterstrom2020 E
CDCA7L     1-0022-004chr7:
22109542-22109545
CAAACAAAAintergenicDe novo--Yuen2017 G
CDCA7L     AU3839303chr7:
21968299-21968299
AGintronicDe novo--Yuen2017 G
CDCA7L     AU4176302chr7:
22144442-22144442
ATintergenicDe novo--Yuen2017 G
CDCA7L     2-1406-003chr7:
22131432-22131432
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA7L     2-1646-003chr7:
21953532-21953532
GAintronicDe novo--Yuen2017 G
CDCA7L     AU4379301chr7:
22085073-22085073
TAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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