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Results for "DCLK3"

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
DCLK3     JASD_Fam0227chr3:
36759633-36759633
CTexonicDe novononsynonymous SNVNM_033403c.G1621Ap.V541M17.128.281E-6Takata2018 E
DCLK3     3-0246-000chr3:
36822590-36822590
TCintergenicDe novo--Yuen2017 G
DCLK3     5-0095-003chr3:
36849278-36849278
GAintergenicDe novo--Yuen2017 G
DCLK3     5-0042-003chr3:
36763045-36763045
CTexonicDe novononsynonymous SNVNM_033403c.G1558Ap.V520I26.5-Yuen2017 G
DCLK3     AU4473301chr3:
36844096-36844096
ATintergenicDe novo--Yuen2017 G
DCLK3     ASC_CA_71_A1chr3:
36778737-36778737
TCexonicDe novononsynonymous SNVNM_033403c.A1414Gp.S472G8.6228.313E-6Satterstrom2020 E
DCLK3     A1chr3:
36757469-36757469
GAintronicDe novo--Wu2018 G
DCLK3     1-0125-003chr3:
36834646-36834646
GAintergenicDe novo--Yuen2017 G
DCLK3     2-1378-003chr3:
36802220-36802220
TGintergenicDe novo--Yuen2017 G
DCLK3     2-1290-004chr3:
36862890-36862890
TGintergenicDe novo--Yuen2017 G
DCLK3     1-0144-005chr3:
36825202-36825202
TCintergenicDe novo--Yuen2017 G
DCLK3     iHART1896chr3:
36779567-36779568
TCTexonicMaternalframeshift deletionNM_033403c.583delGp.E195fs--Ruzzo2019 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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