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Results for "PLCE1"

Variant Events: 36

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
PLCE1     SMHC90004s000chr10:
95931000-95931000
GTexonicDe novononsynonymous SNVNM_001165979
NM_001288989
NM_016341
c.G632T
c.G1556T
c.G1556T
p.S211I
p.S519I
p.S519I
22.6-Yuan2023 E
PLCE1     2-1356-003chr10:
95796497-95796497
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PLCE1     14522.p1chr10:
95805459-95805459
AGintronicDe novo--Werling2018 G
PLCE1     1-0253-004chr10:
95767559-95767559
GTintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     SP0025588chr10:
96084649-96084649
GCexonicDe novononsynonymous SNVNM_001165979
NM_001288989
NM_016341
c.G5797C
c.G6673C
c.G6721C
p.A1933P
p.A2225P
p.A2241P
17.891.662E-5Fu2022 E
Trost2022 G
Zhou2022 GE
PLCE1     SP0042557chr10:
96025640-96025640
CTexonicDe novosynonymous SNVNM_001165979
NM_001288989
NM_016341
c.C3282T
c.C4158T
c.C4206T
p.Y1094Y
p.Y1386Y
p.Y1402Y
--Fu2022 E
Trost2022 G
Zhou2022 GE
PLCE1     1-0272-003chr10:
96060414-96060414
TTCAintronicDe novo--Yuen2017 G
PLCE1     AU4067303chr10:
95930857-95930857
TCintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     iHART1237chr10:
95791890-95791892
TACTexonicPaternalframeshift deletionNM_001288989
NM_016341
c.1088_1089del
c.1088_1089del
p.Y363fs
p.Y363fs
--Ruzzo2019 G
PLCE1     1-0436-003chr10:
96016709-96016709
GTintronicDe novo--Yuen2017 G
PLCE1     7-0123-003chr10:
95815964-95815964
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     AU074403chr10:
95820708-95820708
GTintronicDe novo--Trost2022 G
PLCE1     A32chr10:
95944375-95944375
CAintronicDe novo--Wu2018 G
PLCE1     REACH000089chr10:
95813976-95813976
GCintronicDe novo--Trost2022 G
PLCE1     AU2463301chr10:
95819464-95819464
GAintronicDe novo--Trost2022 G
PLCE1     4-0062-003chr10:
95766239-95766239
TCintronicDe novo--Trost2022 G
PLCE1     1-0350-003chr10:
95807241-95807241
GAintronicDe novo--Trost2022 G
PLCE1     mAGRE1237chr10:
95791890-95791892
TACTexonicPaternalframeshift deletionNM_001288989
NM_016341
c.1088_1089del
c.1088_1089del
p.Y363fs
p.Y363fs
--Cirnigliaro2023 G
PLCE1     2-1366-004chr10:
95815367-95815367
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     2-1688-003chr10:
95988929-95988931
ACTAintronicDe novo--Trost2022 G
PLCE1     1-0611-003chr10:
95998468-95998468
AGintronicDe novo--Trost2022 G
PLCE1     MSSNG00024-003Achr10:
95881516-95881516
CTintronicDe novo--Trost2022 G
PLCE1     1-0597-003chr10:
95970298-95970299
GTAAintronicDe novo--Trost2022 G
PLCE1     7-0095-004chr10:
96066824-96066824
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     2-1097-003chr10:
95848949-95848950
ACTTexonicDe novononframeshift substitutionNM_001165979c.98_99TTN/A--Trost2022 G
PLCE1     1-0092-003chr10:
96021796-96021796
TCintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     3-0709-000chr10:
96083453-96083453
GAintronicDe novo--Trost2022 G
PLCE1     2-1502-003chr10:
95883053-95883053
TCintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     1-1058-003chr10:
96081600-96081600
TCintronicDe novo--Trost2022 G
PLCE1     2-1723-003chr10:
96082523-96082525
CAAGGGintronicDe novo--Trost2022 G
PLCE1     3-0434-000chr10:
95834919-95834919
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PLCE1     MSSNG00384-003chr10:
96011756-96011756
TCintronicDe novo--Trost2022 G
PLCE1     SP0116107chr10:
96025381-96025381
CCTintronicDe novo-7.0E-4Trost2022 G
PLCE1     AU2381302chr10:
95901985-95901985
ATintronicDe novo--Yuen2017 G
PLCE1     1-0010-005chr10:
96012013-96012013
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLCE1     2-1261-003chr10:
96044624-96044624
GAexonicDe novononsynonymous SNVNM_001165979
NM_001288989
NM_016341
c.G4013A
c.G4889A
c.G4937A
p.G1338E
p.G1630E
p.G1646E
28.2-Trost2022 G
Yuen2017 G
Zhou2022 GE
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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