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Results for "PLCG2"

Variant Events: 27

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     2-1719-003chr16:
81929736-81929736
CTintronicDe novo--Yuen2017 G
PLCG2     1-0253-005chr16:
81907438-81907438
TGintronicDe novo--Yuen2017 G
PLCG2     1-0826-004chr16:
81986185-81986185
CTintronicDe novo--Yuen2017 G
PLCG2     AU057503chr16:
81862490-81862493
AGTTAintronicDe novo--Yuen2017 G
PLCG2     2-0158-003chr16:
81912661-81912661
CTintronicDe novo--Yuen2017 G
PLCG2     1-0273-004chr16:
81948622-81948624
GACGintronicDe novo--Yuen2017 G
PLCG2     1-0373-003chr16:
82008773-82008773
TGintergenicDe novo--Yuen2017 G
PLCG2     AU2109302chr16:
81967393-81967393
TAintronicDe novo--Yuen2017 G
PLCG2     2-1086-004chr16:
81905190-81905190
GAintronicDe novo--Yuen2017 G
PLCG2     1-0606-003chr16:
81845009-81845009
GAintronicDe novo--Yuen2017 G
PLCG2     2-0022-004chr16:
81859577-81859577
GAintronicDe novo--Yuen2017 G
PLCG2     13590.p1chr16:
81979892-81979892
GAintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PLCG2     1-0508-003chr16:
81985868-81985881
TTATATATATATATTTATATATATATintronicDe novo--Yuen2017 G
PLCG2     13115.p1chr16:
81819766-81819766
GAexonicDe novononsynonymous SNVNM_002661c.G172Ap.A58T22.68.296E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
PLCG2     SSC00977chr16:
81892756-81892756
CGexonicDe novononsynonymous SNVNM_002661c.C467Gp.T156S12.54-Lim2017 E
PLCG2     11264.p1chr16:
81892756-81892756
CGexonicDe novononsynonymous SNVNM_002661c.C467Gp.T156S12.54-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PLCG2     12793.p1chr16:
81971730-81971730
CTintronicDe novo--Turner2016 G
PLCG2     AU073006chr16:
81929879-81929879
AGintronicDe novo--Yuen2017 G
PLCG2     AU1153302chr16:
81942205-81942205
CTintronicDe novo--Satterstrom2020 E
PLCG2     AU3937301chr16:
81865440-81865440
CTintronicDe novo--Yuen2017 G
PLCG2     2-1605-003chr16:
81959846-81959846
CTintronicDe novo--Yuen2017 G
PLCG2     iHART2285chr16:
81819778-81819778
GAexonicDe novononsynonymous SNVNM_002661c.G184Ap.E62K34.0-Ruzzo2019 G
PLCG2     AU3371301chr16:
82003039-82003039
GAintergenicDe novo--Yuen2017 G
PLCG2     AU4168306chr16:
81963727-81963731
GCCCCGCCCCCintronicDe novo--Yuen2017 G
PLCG2     Codina-Sola2015:ASD_32chr16:
81939026-81939026
CTexonicMaternalstopgainNM_002661c.C1381Tp.R461X38.03.376E-5Codina-Sola2015 E
PLCG2     2-1644-004chr16:
81990345-81990345
CGexonicDe novononsynonymous SNVNM_002661c.C3616Gp.R1206G18.13-Yuen2017 G
PLCG2     1-0591-003chr16:
81851048-81851048
GAintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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