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Results for "PIK3C2G"

Variant Events: 29

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
PIK3C2G     iHART2998chr12:
18496295-18496295
GCsplicingPaternalsplicing16.554.785E-5Ruzzo2019 G
PIK3C2G     iHART2999chr12:
18496295-18496295
GCsplicingPaternalsplicing16.554.785E-5Ruzzo2019 G
PIK3C2G     iHART1901chr12:
18573969-18573969
GAsplicingPaternalsplicing18.15-Ruzzo2019 G
PIK3C2G     iHART2997chr12:
18496295-18496295
GCsplicingPaternalsplicing16.554.785E-5Ruzzo2019 G
PIK3C2G     1-0300-003chr12:
18638666-18638666
ACintronicDe novo--Yuen2017 G
PIK3C2G     iHART1989chr12:
18466993-18466993
CTexonicPaternalstopgainNM_001288772
NM_001288774
NM_004570
c.C1132T
c.C466T
c.C1132T
p.R378X
p.R156X
p.R378X
40.02.689E-5Ruzzo2019 G
PIK3C2G     2-1215-003chr12:
18431537-18431537
TCintronicDe novo--Yuen2017 G
PIK3C2G     iHART1988chr12:
18466993-18466993
CTexonicPaternalstopgainNM_001288772
NM_001288774
NM_004570
c.C1132T
c.C466T
c.C1132T
p.R378X
p.R156X
p.R378X
40.02.689E-5Ruzzo2019 G
PIK3C2G     2-0063-005chr12:
18586811-18586811
GAintronicDe novo--Yuen2017 G
PIK3C2G     AU3984301chr12:
18439373-18439373
TAintronicDe novo--Yuen2017 G
PIK3C2G     1-0233-004chr12:
18558612-18558612
GCintronicDe novo--Yuen2017 G
PIK3C2G     1-0487-003chr12:
18802367-18802367
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PIK3C2G     2-0242-004chr12:
18707240-18707241
CACintronicDe novo--Yuen2017 G
PIK3C2G     2-1341-004chr12:
18545614-18545614
ACintronicDe novo--Yuen2017 G
PIK3C2G     2-0305-003chr12:
18672992-18672992
GCintronicDe novo--Yuen2017 G
PIK3C2G     1-0126-003chr12:
18569091-18569091
AGintronicDe novo--Yuen2017 G
PIK3C2G     2-1359-003chr12:
18672992-18672992
GCintronicDe novo--Yuen2017 G
PIK3C2G     2-1729-003chr12:
18818517-18818517
GAintergenicDe novo--Yuen2017 G
PIK3C2G     AU1987301chr12:
18710622-18710622
TAintronicDe novo--Yuen2017 G
PIK3C2G     2-0299-003chr12:
18672992-18672992
GCintronicDe novo--Yuen2017 G
PIK3C2G     1-0756-003chr12:
18635921-18635921
AGintronicDe novo--Yuen2017 G
PIK3C2G     AU3779302chr12:
18654958-18654958
GAintronicDe novo--Yuen2017 G
PIK3C2G     74-0352chr12:
18510221-18510221
CTintronicDe novo--Michaelson2012 G
PIK3C2G     AU045514chr12:
18714269-18714269
CTintronicDe novo--Yuen2017 G
PIK3C2G     7-0175-003chr12:
18558215-18558215
TCintronicDe novo--Yuen2017 G
PIK3C2G     AU4154303chr12:
18803656-18803659
ATATATATCTATintergenicDe novo--Yuen2017 G
PIK3C2G     1-0826-004chr12:
18681159-18681159
AGintronicDe novo--Yuen2017 G
PIK3C2G     11341.p1chr12:
18436361-18436361
TCintronicDe novo--Turner2016 G
PIK3C2G     12096.p1chr12:
18656192-18656192
GTintronicDe novo--Satterstrom2020 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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