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Results for "PRKCA"

Variant Events: 34

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
PRKCA     2-1258-004chr17:
64363810-64363810
AGintronicDe novo--Yuen2017 G
PRKCA     7-0247-003chr17:
64804671-64804671
GAUTR3De novo--Yuen2017 G
PRKCA     2-1235-004chr17:
64757783-64757783
CTintronicDe novo--Yuen2017 G
PRKCA     G01-GEA-105-HIchr17:
64799956-64799956
AGintronicDe novo--Satterstrom2020 E
PRKCA     1-0273-004chr17:
64649572-64649572
GAintronicDe novo--Yuen2017 G
PRKCA     1-0345-004chr17:
64352198-64352198
GAintronicDe novo--Yuen2017 G
PRKCA     1-0395-003chr17:
64688213-64688213
GAintronicDe novo--Yuen2017 G
PRKCA     2-1720-003chr17:
64627971-64627971
TAintronicDe novo--Yuen2017 G
PRKCA     2-1297-004chr17:
64600005-64600005
TCintronicDe novo--Yuen2017 G
PRKCA     13393.p1chr17:
64583111-64583111
AGintronicDe novo--Turner2016 G
PRKCA     14015.p1chr17:
64758161-64758161
ATintronicDe novo--Turner2016 G
PRKCA     1-0261-004chr17:
64835973-64835973
CTintergenicDe novo--Yuen2017 G
PRKCA     2-1265-003chr17:
64470399-64470399
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PRKCA     2-1366-003chr17:
64587862-64587862
AGintronicDe novo--Yuen2017 G
PRKCA     1-0985-003chr17:
64744827-64744827
TCintronicDe novo--Yuen2017 G
PRKCA     AU1404301chr17:
64602153-64602153
GAintronicDe novo--Yuen2017 G
PRKCA     AU2792301chr17:
64526502-64526502
GTintronicDe novo--Yuen2017 G
PRKCA     Lim2017:5027chr17:
64684446-64684446
GAexonicDe novononsynonymous SNVNM_002737c.G713Ap.R238Q34.08.242E-6Lim2017 E
PRKCA     08C78000chr17:
64683232-64683232
GAexonicDe novononsynonymous SNVNM_002737c.G533Ap.R178Q13.94-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
PRKCA     SSC05261chr17:
64770121-64770121
CTexonicDe novononsynonymous SNVNM_002737c.C1541Tp.P514L26.82.471E-5Lim2017 E
PRKCA     1-0271-003chr17:
64637281-64637281
CAintronicDe novo--Yuen2017 G
PRKCA     5-0050-004chr17:
64365098-64365098
ATintronicDe novo--Yuen2017 G
PRKCA     1-0215-006chr17:
64530186-64530186
CTintronicDe novo--Yuen2017 G
PRKCA     AU4468301chr17:
64344919-64344919
AGintronicDe novo--Yuen2017 G
PRKCA     14158.p1chr17:
64637443-64637443
ACintronicDe novo--Satterstrom2020 E
PRKCA     1-0004-003chr17:
64459262-64459262
CCTTintronicDe novo--Yuen2017 G
PRKCA     AU4410302chr17:
64857856-64857856
CTintergenicDe novo--Yuen2017 G
PRKCA     2K001chr17:
64641648-64641648
GAintronicDe novo-4.134E-5Satterstrom2020 E
PRKCA     2-1107-003chr17:
64334248-64334248
TGintronicDe novo--Yuen2016 G
Yuen2017 G
PRKCA     12744.p1chr17:
64684446-64684446
GAexonicDe novononsynonymous SNVNM_002737c.G713Ap.R238Q34.08.242E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
PRKCA     2-1180-003chr17:
64609584-64609584
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PRKCA     14261.p1chr17:
64685129-64685129
CTexonicDe novosynonymous SNVNM_002737c.C882Tp.D294D-8.397E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PRKCA     12465.p1chr17:
64770121-64770121
CTexonicDe novononsynonymous SNVNM_002737c.C1541Tp.P514L26.82.471E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
PRKCA     5-0071-003chr17:
64757321-64757321
CGintronicDe 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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