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Results for "CSNK2A1"

Variant Events: 14

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
CSNK2A1     1-0539-003chr20:
501271-501271
GGTAintronicDe novo--Yuen2017 G
CSNK2A1     AU069603chr20:
485592-485592
CTintronicDe novo--Yuen2017 G
CSNK2A1     SSC02462chr20:
472926-472926
TCexonicDe novononsynonymous SNVNM_177560
NM_001895
NM_177559
c.A185G
c.A593G
c.A593G
p.K62R
p.K198R
p.K198R
30.0-Lim2017 E
CSNK2A1     11097.p1chr20:
472926-472926
TCexonicDe novononsynonymous SNVNM_177560
NM_001895
NM_177559
c.A185G
c.A593G
c.A593G
p.K62R
p.K198R
p.K198R
30.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CSNK2A1     1-0453-003chr20:
507183-507183
AGintronicDe novo--Yuen2017 G
CSNK2A1     1-0481-003chr20:
489117-489117
CTexonicDe novononsynonymous SNVNM_001895
NM_177559
c.G79A
c.G79A
p.E27K
p.E27K
27.1-Wang2020 T
Yuen2017 G
CSNK2A1     1-0065-005chr20:
580316-580316
CCTATAintergenicDe novo--Yuen2017 G
CSNK2A1     319424chr20:
476433-476433
CTexonicUnknownnonsynonymous SNVNM_177560
NM_001895
NM_177559
c.G32A
c.G440A
c.G440A
p.C11Y
p.C147Y
p.C147Y
25.2-Wang2020 T
Wang2020 T
CSNK2A1     SF0012788.p1chr20:
468070-468070
CGsplicingDe novosplicing24.1-Wang2020 T
CSNK2A1     1-0373-003chr20:
486048-486048
GGGCTintronicDe novo--Yuen2017 G
CSNK2A1     SF0141690.p1chr20:
485859-485859
TCexonicDe novononsynonymous SNVNM_001895
NM_177559
c.A116G
c.A116G
p.Y39C
p.Y39C
16.87-Wang2020 T
CSNK2A1     1-0627-005chr20:
477885-477885
ACintronicDe novo--Yuen2017 G
CSNK2A1     61644340chr20:
468128-468128
GAexonicDe novostopgainNM_177560
NM_001895
NM_177559
c.C508T
c.C916T
c.C916T
p.R170X
p.R306X
p.R306X
41.0-Wang2020 T
Wang2020 T
CSNK2A1     AU026604chr20:
484771-484771
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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