Variant Results

or

Results for "PLCG1"

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

PLCG1

13515.p1

Complex Event; expand row to view variants

De novo

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G

PLCG1

SP0115933

chr20:
39801182-39801182

C

T

exonic

De novo

synonymous SNV

NM_002660
NM_182811

c.C3027T
c.C3027T

p.S1009S
p.S1009S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PLCG1

SP0015466

chr20:
39794321-39794321

C

T

exonic

De novo

nonsynonymous SNV

NM_002660
NM_182811

c.C1654T
c.C1654T

p.H552Y
p.H552Y

27.0

-

Fu2022 E
Zhou2022 GE

PLCG1

AU4060306

chr20:
39771760-39771760

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLCG1

SP0080896

chr20:
39803090-39803090

T

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PLCG1

SP0144155

chr20:
39788623-39788623

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

PLCG1

DEASD_0061_001

chr20:
39795512-39795512

T

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PLCG1

13023.p1

chr20:
39804157-39804157

G

A

UTR3

De novo

-

Turner2016 G

PLCG1

2-1235-003

chr20:
39799346-39799348

GCC

ACAG

intronic

De novo

-

Trost2022 G

PLCG1

AU4343302

chr20:
39794641-39794641

A

C

intronic

De novo

-

Trost2022 G

PLCG1

SSC07797

chr20:
39791805-39791805

G

GT

intronic

De novo

-

Trost2022 G

PLCG1

08C76114

chr20:
39803152-39803152

G

A

UTR3

De novo

-

Satterstrom2020 E
Trost2022 G

PLCG1

SP0187649

chr20:
39788418-39788418

A

C

intronic

De novo

-

Trost2022 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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