or
or
Exact

Results for "PRKCQ"

Variant Events: 16

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
PRKCQ     AU4376301chr10:
6543573-6543573
CTintronicDe novo--Yuen2017 G
PRKCQ     2-1350-003chr10:
6598413-6598413
AAGAAGAAAAGAGAAGGGAAGAAAAGintronicDe novo--Yuen2017 G
PRKCQ     2-1318-004chr10:
6505726-6505726
GCintronicDe novo--Yuen2017 G
PRKCQ     111316chr10:
6553075-6553075
CTexonicnonsynonymous SNVNM_001242413
NM_001282644
NM_006257
c.G200A
c.G92A
c.G200A
p.G67E
p.G31E
p.G67E
27.88.237E-6Woodbury-Smith2022 E
PRKCQ     1-0045-004chr10:
6598133-6598133
TAintronicDe novo--Yuen2017 G
PRKCQ     2-1644-003chr10:
6598136-6598136
ACintronicDe novo--Yuen2017 G
PRKCQ     1-0329-004chr10:
6502194-6502194
GAintronicDe novo--Yuen2017 G
PRKCQ     1-0408-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PRKCQ     09C95778chr10:
6470365-6470365
TCintronicDe novo-1.692E-5Kosmicki2017 E
Satterstrom2020 E
PRKCQ     1-0627-006chr10:
6500601-6500601
GAintronicDe novo--Yuen2017 G
PRKCQ     1-0868-003chr10:
6592112-6592112
GCintronicDe novo--Yuen2017 G
PRKCQ     5-0061-003chr10:
6598413-6598413
AAGAAGAAAAGAGAAGGGAAGAAAAGintronicDe novo--Yuen2017 G
PRKCQ     72-1397chr10:
6527171-6527171
GTexonicInheritednonsynonymous SNVNM_001282645
NM_001242413
NM_001282644
NM_006257
c.C586A
c.C961A
c.C853A
c.C961A
p.P196T
p.P321T
p.P285T
p.P321T
8.321.0E-4Patowary2019 E
PRKCQ     09C89982chr10:
6540488-6540488
CTexonicDe novononsynonymous SNVNM_001282645
NM_001242413
NM_001282644
NM_006257
c.G37A
c.G412A
c.G304A
c.G412A
p.G13S
p.G138S
p.G102S
p.G138S
10.77-Satterstrom2020 E
PRKCQ     1-0019-004chr10:
6598415-6598415
AAGAGintronicDe novo--Yuen2017 G
PRKCQ     AU3122301chr10:
6540488-6540488
CTexonicDe novononsynonymous SNVNM_001282645
NM_001242413
NM_001282644
NM_006257
c.G37A
c.G412A
c.G304A
c.G412A
p.G13S
p.G138S
p.G102S
p.G138S
10.77-Yuen2017 G
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 notesView
More