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Results for "PIK3CD"

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
PIK3CD     SP0041715chr1:
9776655-9776655
GCexonicDe novononsynonymous SNVNM_005026c.G758Cp.S253T16.29-Trost2022 G
Zhou2022 GE
PIK3CD     SP0116179chr1:
9781802-9781802
CTintronicDe novo--Fu2022 E
Trost2022 G
PIK3CD     AU2392301chr1:
9780560-9780560
AGintronic--Zhou2022 GE
PIK3CD     11089.p1chr1:
9773962-9773962
GCintronicDe novo--Turner2016 G
PIK3CD     SP0083239chr1:
9778926-9778926
GAexonicDe novononsynonymous SNVNM_005026c.G1195Ap.E399K26.48.306E-6Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PIK3CD     1-0512-003chr1:
9752518-9752518
CTintronicDe novo--Trost2022 G
Yuen2017 G
PIK3CD     2-1345-003chr1:
9724814-9724814
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PIK3CD     3-0380-000chr1:
9732328-9732328
CAintronicDe novo--Trost2022 G
PIK3CD     5-0005-003chr1:
9753996-9753997
ACAintronicDe novo--Trost2022 G
PIK3CD     SJD_65.3chr1:
9751225-9751225
CAintronicDe novo--Trost2022 G
PIK3CD     2-1398-003chr1:
9769666-9769666
GAintronicDe novo--Trost2022 G
Yuen2017 G
PIK3CD     SP0093944chr1:
9782071-9782071
CTexonicDe novosynonymous SNVNM_005026c.C2094Tp.F698F-3.0E-4Trost2022 G
PIK3CD     SP0041715chr1:
9776629-9776629
CAexonicDe novononsynonymous SNVNM_005026c.C732Ap.N244K20.5-Fu2022 E
Trost2022 G
Zhou2022 GE
PIK3CD     SP0203881chr1:
9780154-9780154
CGintronicDe novo--Trost2022 G
PIK3CD     5-5237-003chr1:
9771034-9771034
GAintronicDe novo--Trost2022 G
PIK3CD     SP0185692chr1:
9780857-9780857
GAexonicDe novononsynonymous SNVNM_005026c.G1579Ap.E527K17.78-Trost2022 G
PIK3CD     SP0252837chr1:
9780249-9780249
CTexonicDe novosynonymous SNVNM_005026c.C1419Tp.I473I--Trost2022 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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