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Results for "PIK3CA"

Variant Events: 13

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
PIK3CA     Mahjani2021:26chr3:
178916684-178916684
GAexonicnonsynonymous SNVNM_006218c.G71Ap.C24Y18.65-Mahjani2021 E
PIK3CA     13171.p1chr3:
178867129-178867129
ATintronicDe novo--Turner2016 G
PIK3CA     AU057405chr3:
178930340-178930340
CAintronicDe novo--Yuen2017 G
PIK3CA     iHART2956chr3:
178928068-178928068
CTexonicDe novononsynonymous SNVNM_006218c.C1346Tp.P449L28.6-Ruzzo2019 G
PIK3CA     AU3680301chr3:
178910593-178910593
GCintronicDe novo--Yuen2017 G
PIK3CA     14602.p1chr3:
178942653-178942653
AGintronicDe novo--Satterstrom2020 E
PIK3CA     09C82723chr3:
178928068-178928068
CTexonicUnknownnonsynonymous SNVNM_006218c.C1346Tp.P449L28.6-Stessman2017 T
PIK3CA     5-0054-003chr3:
178942502-178942502
GAexonicDe novononsynonymous SNVNM_006218c.G2309Ap.R770Q32.03.323E-5Yuen2017 G
PIK3CA     JASD_Fam0013chr3:
178947865-178947865
GAexonicDe novononsynonymous SNVNM_006218c.G2740Ap.G914R33.0-Takata2018 E
PIK3CA     Mahjani2021:3chr3:
178947841-178947841
GAexonicnonsynonymous SNVNM_006218c.G2716Ap.V906I35.0-Mahjani2021 E
PIK3CA     M16223chr3:
178937494-178937494
CTexonicMaternalnonsynonymous SNVNM_006218c.C1882Tp.L628F32.0-Stessman2017 T
PIK3CA     2-1066-003chr3:
178949052-178949052
AGintronicDe novo--Yuen2017 G
PIK3CA     JASD_Fam0003chr3:
178952088-178952088
AGexonicDe novononsynonymous SNVNM_006218c.A3143Gp.H1048R2.269-Takata2018 E
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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