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Results for "PRKCZ"

Variant Events: 15

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
PRKCZ     14692.p1chr1:
2075646-2075646
CTintronicDe novo--Krumm2015 E
Satterstrom2020 E
PRKCZ     SP0039609chr1:
2082363-2082363
TCexonicDe novosynonymous SNVNM_001033581
NM_001033582
NM_001242874
NM_002744
c.T273C
c.T273C
c.T510C
c.T822C
p.N91N
p.N91N
p.N170N
p.N274N
--Fu2022 E
PRKCZ     SP0094371chr1:
2106739-2106739
TCexonicDe novononsynonymous SNVNM_001033581
NM_001033582
NM_001242874
NM_002744
c.T1013C
c.T1013C
c.T1250C
c.T1562C
p.I338T
p.I338T
p.I417T
p.I521T
18.28-Fu2022 E
PRKCZ     REACH000089chr1:
2105416-2105416
GAexonicnonsynonymous SNVNM_001033581
NM_001033582
NM_001242874
NM_002744
c.G817A
c.G817A
c.G1054A
c.G1366A
p.D273N
p.D273N
p.D352N
p.D456N
23.08.328E-6Antaki2022 GE
PRKCZ     G01-GEA-44-HIchr1:
2066753-2066753
CTexonicDe novosynonymous SNVNM_001242874
NM_002744
c.C75T
c.C387T
p.N25N
p.N129N
-2.502E-5Fu2022 E
Lim2017 E
Satterstrom2020 E
PRKCZ     AU075703chr1:
1996978-1996978
CTintronicDe novo--Yuen2017 G
PRKCZ     2-1434-003chr1:
2038248-2038248
GAintronicDe novo--Yuen2017 G
PRKCZ     AU3911302chr1:
2082066-2082066
ACintronicDe novo--Yuen2017 G
PRKCZ     AU071204chr1:
2056991-2056991
CTintronicDe novo--Yuen2017 G
PRKCZ     13143.p1chr1:
2058479-2058479
CTintronicDe novo--Wilfert2021 G
PRKCZ     1-0019-004chr1:
2094966-2094966
GAintronicDe novo--Yuen2017 G
PRKCZ     AU3761302chr1:
2109901-2109901
TCintronicDe novo--Yuen2017 G
PRKCZ     SSC12193chr1:
2075646-2075646
CTintronicDe novo--Fu2022 E
PRKCZ     2-1153-003chr1:
2038248-2038248
GAintronicDe novo--Yuen2017 G
PRKCZ     2-1303-003chr1:
2049524-2049524
CTintronicDe 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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