Variant Results

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Results for "CDK5RAP3"

Variant Events: 13

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

2-0210-005

chr17:
46052190-46052190

G

A

UTR5

De novo

-

-

Yuen2017 G

CDK5RAP3

2-1345-003

chr17:
46052247-46052247

A

C

UTR5

De novo

-

-

Yuen2017 G

CDK5RAP3

AU4264302

chr17:
46054413-46054413

C

T

intronic

De novo

-

-

Yuen2017 G

CDK5RAP3

AU4033303

chr17:
46089983-46089983

G

C

intergenic

De novo

-

-

Yuen2017 G

CDK5RAP3

SP0027705

chr17:
46048812-46048812

G

T

intronic

De novo

-

-

Fu2022 E

CDK5RAP3

iHART2245

chr17:
46058802-46058802

G

C

splicing

Paternal

splicing

21.9

Ruzzo2019 G

CDK5RAP3

iHART2244

chr17:
46058802-46058802

G

C

splicing

Paternal

splicing

21.9

Ruzzo2019 G

CDK5RAP3

7-0255-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

CDK5RAP3

74-0688

chr17:
46071413-46071413

C

T

intergenic

De novo

-

-

Michaelson2012 G

CDK5RAP3

11324.p1

chr17:
46051829-46051829

C

A

UTR5

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CDK5RAP3

1-0923-003

chr17:
46058441-46058441

T

A

intronic

De novo

-

-

Yuen2017 G

CDK5RAP3

5-0083-003

chr17:
46061918-46061918

G

T

intergenic

De novo

-

-

Yuen2017 G

CDK5RAP3

PN400281

chr17:
46053015-46053015

G

T

exonic

Unknown

stopgain

NM_001278217
NM_001278197
NM_176096

c.G388T
c.G724T
c.G649T

p.E130X
p.E242X
p.E217X

27.3

-

Leblond2019 E

Source Variant Information

, -

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 notes	View
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