Variant Results

or

or

Results for "PIK3CG"

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

PIK3CG

1-0261-003

chr7:
106518290-106518290

G

A

intronic

De novo

-

-

Trost2022 G

PIK3CG

AU4060306

chr7:
106513348-106513348

C

T

exonic

De novo

nonsynonymous SNV

NM_001282426
NM_001282427
NM_002649

c.C2252T
c.C2252T
c.C2252T

p.S751L
p.S751L
p.S751L

11.97

Trost2022 G
Yuen2017 G
Zhou2022 GE

PIK3CG

2-1458-003

chr7:
106518290-106518290

G

A

intronic

De novo

-

-

Trost2022 G

PIK3CG

SP0045624

chr7:
106509287-106509288

TC

T

exonic

De novo

frameshift deletion

NM_001282426
NM_001282427
NM_002649

c.1282delC
c.1282delC
c.1282delC

p.L428fs
p.L428fs
p.L428fs

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PIK3CG

1-0665-003

chr7:
106585800-106585800

G

A

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

mAGRE6091

chr7:
106508642-106508642

G

A

exonic

Paternal

stopgain

NM_001282426
NM_001282427
NM_002649

c.G636A
c.G636A
c.G636A

p.W212X
p.W212X
p.W212X

19.26

-

Cirnigliaro2023 G

PIK3CG

mAGRE6089

chr7:
106508642-106508642

G

A

exonic

Paternal

stopgain

NM_001282426
NM_001282427
NM_002649

c.G636A
c.G636A
c.G636A

p.W212X
p.W212X
p.W212X

19.26

-

Cirnigliaro2023 G

PIK3CG

AU4215302

chr7:
106582048-106582048

C

T

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

12568.p1

chr7:
106670462-106670462

A

C

intergenic

De novo

-

-

Turner2016 G

PIK3CG

2-1215-003

chr7:
106576448-106576448

A

G

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

5-0105-003

chr7:
106658243-106658243

C

T

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

7-0024-003

chr7:
106558092-106558092

G

T

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

1-0224-004

chr7:
106638131-106638131

C

T

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

1-0075-003

chr7:
106600132-106600132

C

G

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

2-1357-003

chr7:
106597134-106597134

C

CCTCA

intergenic

De novo

-

-

Yuen2017 G

PIK3CG

MSSNG00382-003

chr7:
106523500-106523500

C

T

exonic

De novo

synonymous SNV

NM_001282426
NM_001282427
NM_002649

c.C2652T
c.C2652T
c.C2652T

p.D884D
p.D884D
p.D884D

-

Trost2022 G
Zhou2022 GE

PIK3CG

AU4444304

chr7:
106583123-106583123

G

A

intergenic

De 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 notes	View
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