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Results for "CDK5RAP2"

Variant Events: 16

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
CDK5RAP2     1-0175-004chr9:
123152750-123152750
CTintronicDe novo--Yuen2017 G
CDK5RAP2     DEASD_1039_001chr9:
123152115-123152115
GAintronicDe novo--Satterstrom2020 E
CDK5RAP2     AU135Achr9:
123201635-123201635
GTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
CDK5RAP2     11673chr9:
123165399-123165399
GAintronicDe novo-8.354E-6Satterstrom2020 E
CDK5RAP2     Li2017:23707chr9:
123182114-123182114
CAexonicUnknownnonsynonymous SNVNM_001272039
NM_001011649
NM_018249
c.G3439T
c.G4129T
c.G4129T
p.D1147Y
p.D1377Y
p.D1377Y
17.69-Li2017 T
CDK5RAP2     AU4463303chr9:
123195594-123195594
CGintronicDe novo--Yuen2017 G
CDK5RAP2     2-0244-004chr9:
123182660-123182660
GAintronicDe novo--Yuen2017 G
CDK5RAP2     2-1430-003chr9:
123162762-123162762
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CDK5RAP2     11194.p1chr9:
123332328-123332328
GAintronicDe novo--Turner2016 G
CDK5RAP2     1-0455-004chr9:
123200146-123200146
TCintronicDe novo--Yuen2017 G
CDK5RAP2     1-0175-003chr9:
123152750-123152750
CTintronicDe novo--Yuen2017 G
CDK5RAP2     AU3786301chr9:
123318660-123318660
CAintronicDe novo--Yuen2017 G
CDK5RAP2     2-1690-003chr9:
123164948-123164948
AGintronicDe novo--Yuen2017 G
CDK5RAP2     2-1085-003chr9:
123168716-123168716
GCintronicDe novo--Yuen2017 G
CDK5RAP2     1-0455-004chr9:
123319302-123319302
TGintronicDe novo--Yuen2017 G
CDK5RAP2     7-0044-003chr9:
123165399-123165399
GAintronicDe novo-8.354E-6Yuen2017 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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