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Results for "CNKSR3"

Variant Events: 24

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
CNKSR3     2-0309-005chr6:
154866987-154866987
ATintergenicDe novo--Yuen2017 G
CNKSR3     DEASD_0304_001chr6:
154727783-154727783
TCexonicDe novononsynonymous SNVNM_173515c.A1373Gp.E458G16.77-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CNKSR3     1-0180-004chr6:
154771815-154771815
GCintronicDe novo--Yuen2017 G
CNKSR3     2-0022-004chr6:
155039416-155039416
TCintergenicDe novo--Yuen2017 G
CNKSR3     2-0036-003chr6:
154994184-154994184
GAintergenicDe novo--Yuen2016 G
CNKSR3     1-0458-004chr6:
154867645-154867645
CTintergenicDe novo--Yuen2017 G
CNKSR3     14404.p1chr6:
155019136-155019136
GAintergenicDe novo--Werling2018 G
CNKSR3     1-0565-003chr6:
155051871-155051871
AGintergenicDe novo--Yuen2017 G
CNKSR3     AU3632301chr6:
154845568-154845568
CTintergenicDe novo--Yuen2017 G
CNKSR3     AU1795302chr6:
154892429-154892429
CTintergenicDe novo--Yuen2017 G
CNKSR3     2-1366-003chr6:
155051871-155051871
AGintergenicDe novo--Yuen2017 G
CNKSR3     2-0142-004chr6:
154790844-154790844
AGintronicDe novo--Yuen2017 G
CNKSR3     2-1114-003chr6:
154869558-154869558
GTintergenicDe novo--Yuen2017 G
CNKSR3     14153.p1chr6:
154734240-154734244
GAAGAGintronicDe novo--Werling2018 G
CNKSR3     1-0675-003chr6:
154962516-154962516
GAintergenicDe novo--Yuen2017 G
CNKSR3     2-1283-004chr6:
155051871-155051871
AGintergenicDe novo--Yuen2017 G
CNKSR3     5-0046-003chr6:
154837651-154837651
GTintergenicDe novo--Yuen2017 G
CNKSR3     5-0015-003chr6:
154850563-154850563
CTintergenicDe novo--Yuen2017 G
CNKSR3     AU3888302chr6:
154925555-154925555
GAintergenicDe novo--Yuen2017 G
CNKSR3     1-0353-003chr6:
155051871-155051871
AGintergenicDe novo--Yuen2017 G
CNKSR3     AU056804chr6:
154927731-154927731
GCintergenicDe novo--Yuen2017 G
CNKSR3     JASD_Fam0106chr6:
154727786-154727788
CCTCsplicingDe novosplicing-1.0E-4Takata2018 E
CNKSR3     2-1626-003chr6:
154839755-154839755
AGintergenicDe novo--Yuen2017 G
CNKSR3     AU3794301chr6:
154927302-154927302
GAintergenicDe novo--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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