or
or
Exact

Results for "PRKCI"

Variant Events: 17

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
PRKCI     SP0100316chr3:
169988210-169988210
GCexonicDe novononsynonymous SNVNM_002740c.G452Cp.R151P13.84-Fu2022 E
PRKCI     2-1357-003chr3:
170037328-170037328
AGintergenicDe novo--Yuen2017 G
PRKCI     2-1283-004chr3:
169948063-169948063
CTintronicDe novo--Yuen2017 G
PRKCI     2-0242-005chr3:
169950385-169950385
TCintronicDe novo--Yuen2017 G
PRKCI     7-0253-005chr3:
170047117-170047117
TGintergenicDe novo--Yuen2017 G
PRKCI     2-1089-003chr3:
170037447-170037447
AATTTTTTTTTTTTTTTintergenicDe novo--Yuen2017 G
PRKCI     AU030104chr3:
169954137-169954137
CTintronicDe novo--Yuen2017 G
PRKCI     2-0149-003chr3:
169950385-169950385
TCintronicDe novo--Yuen2017 G
PRKCI     1-0045-003chr3:
169950385-169950385
TCintronicDe novo--Yuen2017 G
PRKCI     3-0080-000chr3:
169987872-169987872
CGintronicDe novo--Yuen2017 G
PRKCI     14370.p1chr3:
170010785-170010785
CTintronicDe novo--Turner2016 G
PRKCI     A26chr3:
170047047-170047047
TAintergenicDe novo--Wu2018 G
PRKCI     1-0209-003chr3:
170019906-170019906
GAintronicDe novo--Yuen2017 G
PRKCI     2-1379-003chr3:
170044052-170044052
TGintergenicDe novo--Yuen2017 G
PRKCI     AU030103chr3:
169954137-169954137
CTintronicDe novo--Yuen2017 G
PRKCI     PN400108chr3:
170011257-170011257
GAexonicUnknownnonsynonymous SNVNM_002740c.G1378Ap.D460N34.0-Leblond2019 E
PRKCI     1-0652-004chr3:
170037375-170037375
ACintergenicDe novo--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