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Results for "CDCA2"

Variant Events: 28

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
CDCA2     AU2410301chr8:
25604712-25604712
TCintergenicDe novo--Yuen2017 G
CDCA2     1-0184-003chr8:
25529245-25529245
GTintergenicDe novo--Yuen2017 G
CDCA2     1-0054-004chr8:
25478829-25478829
GAintergenicDe novo--Yuen2017 G
CDCA2     2-1526-004chr8:
25325336-25325336
AGintronicDe novo--Yuen2017 G
CDCA2     1-0257-003chr8:
25670004-25670004
GAintergenicDe novo--Yuen2017 G
CDCA2     AU074503chr8:
25659671-25659671
GAintergenicDe novo--Yuen2017 G
CDCA2     2-1131-003chr8:
25656729-25656729
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA2     2-0019-004chr8:
25405506-25405506
TTGCintergenicDe novo--Yuen2017 G
CDCA2     2-0149-004chr8:
25432665-25432665
GTintergenicDe novo--Yuen2017 G
CDCA2     PN400587chr8:
25323820-25323820
GAexonicDe novononsynonymous SNVNM_152562c.G517Ap.E173K13.15-Leblond2019 E
CDCA2     7-0254-004chr8:
25456682-25456689
ACTCCTCCACTCCintergenicDe novo--Yuen2017 G
CDCA2     AU4028302chr8:
25545866-25545866
CTintergenicDe novo--Yuen2017 G
CDCA2     iHART2351chr8:
25360911-25360916
AGAAAGAexonicMaternalframeshift deletionNM_152562c.1695_1699delp.K565fs-6.703E-5Ruzzo2019 G
CDCA2     iHART1606chr8:
25323689-25323689
AGsplicingMaternalsplicing15.848.248E-6Ruzzo2019 G
CDCA2     AU3900302chr8:
25570175-25570175
CTintergenicDe novo--Yuen2017 G
CDCA2     A18chr8:
25573760-25573760
AGintergenicDe novo--Wu2018 G
CDCA2     1-0406-003chr8:
25509484-25509488
TAATCTintergenicDe novo--Yuen2017 G
CDCA2     2-1380-003chr8:
25398515-25398515
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA2     2-1231-003chr8:
25405274-25405280
AATTATTAintergenicDe novo--Yuen2016 G
CDCA2     1-0541-004chr8:
25318502-25318502
GTintronicDe novo--Yuen2017 G
CDCA2     11117.p1chr8:
25364646-25364646
GTexonicMosaic Pat.nonsynonymous SNVNM_152562c.G2464Tp.V822L5.995-Dou2017 E
CDCA2     2-1250-003chr8:
25531130-25531130
GTintergenicDe novo--Yuen2017 G
CDCA2     1-0059-003chr8:
25542217-25542217
GAintergenicDe novo--Yuen2017 G
CDCA2     2-1169-004chr8:
25648304-25648310
ACTGATTAintergenicDe novo--Yuen2017 G
CDCA2     09C80147chr8:
25317876-25317876
CTintronicDe novo--Satterstrom2020 E
CDCA2     1-0495-003chr8:
25641606-25641606
ACintergenicDe novo--Yuen2017 G
CDCA2     2-1177-003chr8:
25396280-25396280
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
CDCA2     2-1177-003chr8:
25638283-25638283
TGintergenicDe novo--Yuen2016 G
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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