Variant Results

or

Results for "PLCG2"

Variant Events: 31

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

PLCG2

2-1719-003

chr16:
81929736-81929736

C

T

intronic

De novo

-

Yuen2017 G

PLCG2

1-0253-005

chr16:
81907438-81907438

T

G

intronic

De novo

-

Yuen2017 G

PLCG2

1-0826-004

chr16:
81986185-81986185

C

T

intronic

De novo

-

Yuen2017 G

PLCG2

AU057503

chr16:
81862490-81862493

AGTT

A

intronic

De novo

-

Yuen2017 G

PLCG2

2-0158-003

chr16:
81912661-81912661

C

T

intronic

De novo

-

Yuen2017 G

PLCG2

1-0273-004

chr16:
81948622-81948624

GAC

G

intronic

De novo

-

Yuen2017 G

PLCG2

1-0373-003

chr16:
82008773-82008773

T

G

intergenic

De novo

-

Yuen2017 G

PLCG2

AU2109302

chr16:
81967393-81967393

T

A

intronic

De novo

-

Yuen2017 G

PLCG2

2-1086-004

chr16:
81905190-81905190

G

A

intronic

De novo

-

Yuen2017 G

PLCG2

1-0606-003

chr16:
81845009-81845009

G

A

intronic

De novo

-

Yuen2017 G

PLCG2

SP0010792

chr16:
81990436-81990436

G

T

exonic

De novo

nonsynonymous SNV

NM_002661

c.G3707T

p.S1236I

10.71

-

Fu2022 E

PLCG2

2-0022-004

chr16:
81859577-81859577

G

A

intronic

De novo

-

Yuen2017 G

PLCG2

SP0101736

chr16:
81953229-81953229

G

T

exonic

De novo

nonsynonymous SNV

NM_002661

c.G2195T

p.R732L

34.0

-

Fu2022 E

PLCG2

SP0069020

chr16:
81973476-81973476

T

G

intronic

De novo

-

Fu2022 E

PLCG2

13590.p1

chr16:
81979892-81979892

G

A

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

PLCG2

1-0508-003

chr16:
81985868-81985881

TTATATATATATAT

TTATATATATAT

intronic

De novo

-

Yuen2017 G

PLCG2

13115.p1

chr16:
81819766-81819766

G

A

exonic

De novo

nonsynonymous SNV

NM_002661

c.G172A

p.A58T

22.6

8.296E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

PLCG2

SSC00977

chr16:
81892756-81892756

C

G

exonic

De novo

nonsynonymous SNV

NM_002661

c.C467G

p.T156S

12.54

-

Fu2022 E
Lim2017 E

PLCG2

11264.p1

chr16:
81892756-81892756

C

G

exonic

De novo

nonsynonymous SNV

NM_002661

c.C467G

p.T156S

12.54

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PLCG2

12793.p1

chr16:
81971730-81971730

C

T

intronic

De novo

-

Turner2016 G

PLCG2

AU073006

chr16:
81929879-81929879

A

G

intronic

De novo

-

Yuen2017 G

PLCG2

AU1153302

chr16:
81942205-81942205

C

T

intronic

De novo

-

Satterstrom2020 E

PLCG2

AU3937301

chr16:
81865440-81865440

C

T

intronic

De novo

-

Yuen2017 G

PLCG2

2-1605-003

chr16:
81959846-81959846

C

T

intronic

De novo

-

Yuen2017 G

PLCG2

iHART2285

chr16:
81819778-81819778

G

A

exonic

De novo

nonsynonymous SNV

NM_002661

c.G184A

p.E62K

34.0

-

Ruzzo2019 G

PLCG2

AU3371301

chr16:
82003039-82003039

G

A

intergenic

De novo

-

Yuen2017 G

PLCG2

13115_p1

chr16:
81819766-81819766

G

A

exonic

De novo

nonsynonymous SNV

NM_002661

c.G172A

p.A58T

22.6

8.296E-6

Fu2022 E

PLCG2

AU4168306

chr16:
81963727-81963731

GCCCC

GCCCCC

intronic

De novo

-

Yuen2017 G

PLCG2

Codina-Sola2015:ASD_32

chr16:
81939026-81939026

C

T

exonic

Maternal

stopgain

NM_002661

c.C1381T

p.R461X

38.0

3.376E-5

Codina-Sola2015 E

PLCG2

2-1644-004

chr16:
81990345-81990345

C

G

exonic

De novo

nonsynonymous SNV

NM_002661

c.C3616G

p.R1206G

18.13

-

Yuen2017 G

PLCG2

1-0591-003

chr16:
81851048-81851048

G

A

intronic

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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