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Results for "CDK5RAP3"

Variant Events: 12

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
CDK5RAP3     AU4033303chr17:
46089983-46089983
GCintergenicDe novo--Yuen2017 G
CDK5RAP3     iHART2245chr17:
46058802-46058802
GCsplicingPaternalsplicing21.99.937E-5Ruzzo2019 G
CDK5RAP3     iHART2244chr17:
46058802-46058802
GCsplicingPaternalsplicing21.99.937E-5Ruzzo2019 G
CDK5RAP3     2-0210-005chr17:
46052190-46052190
GAUTR5De novo--Yuen2017 G
CDK5RAP3     7-0255-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CDK5RAP3     74-0688chr17:
46071413-46071413
CTintergenicDe novo--Michaelson2012 G
CDK5RAP3     2-1345-003chr17:
46052247-46052247
ACUTR5De novo--Yuen2017 G
CDK5RAP3     11324.p1chr17:
46051829-46051829
CAUTR5De novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CDK5RAP3     1-0923-003chr17:
46058441-46058441
TAintronicDe novo--Yuen2017 G
CDK5RAP3     AU4264302chr17:
46054413-46054413
CTintronicDe novo--Yuen2017 G
CDK5RAP3     5-0083-003chr17:
46061918-46061918
GTintergenicDe novo--Yuen2017 G
CDK5RAP3     PN400281chr17:
46053015-46053015
GTexonicUnknownstopgainNM_001278217
NM_001278197
NM_176096
c.G388T
c.G724T
c.G649T
p.E130X
p.E242X
p.E217X
27.3-Leblond2019 E
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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