or
or
Exact

Results for "PLXDC2"

Variant Events: 93

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
PLXDC2     1-0079-004chr10:
20374146-20374146
AAGintronicDe novo--Trost2022 G
PLXDC2     5-0005-003chr10:
20386465-20386465
CTintronicDe novo--Trost2022 G
PLXDC2     2-1086-004chr10:
20148934-20148934
CGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     REACH000467chr10:
20332277-20332278
GAGintronicDe novo--Trost2022 G
PLXDC2     AU2433303chr10:
20363835-20363835
CGintronicDe novo--Trost2022 G
PLXDC2     L7H6W_01chr10:
20289777-20289777
GAintronicDe novo--Trost2022 G
PLXDC2     4-0096-003chr10:
20303349-20303349
TCintronicDe novo--Trost2022 G
PLXDC2     7-0469-003chr10:
20272523-20272523
CTintronicDe novo--Trost2022 G
PLXDC2     REACH000609chr10:
20276676-20276676
GAintronicDe novo--Trost2022 G
PLXDC2     AU2320301chr10:
20532196-20532196
CTintronicDe novo--Trost2022 G
PLXDC2     2-1120-003chr10:
20835610-20835610
TTAACTCintergenicDe novo--Yuen2017 G
PLXDC2     MSSNG00016-004chr10:
20537525-20537525
ACintronicDe novo--Trost2022 G
PLXDC2     2-1784-003chr10:
20499461-20499461
GAintronicDe novo--Trost2022 G
PLXDC2     MT_121.3chr10:
20529938-20529938
AGintronicDe novo--Trost2022 G
PLXDC2     5-0009-003chr10:
20413469-20413469
GAintronicDe novo--Trost2022 G
PLXDC2     AU3371302chr10:
20415325-20415325
CAintronicDe novo--Trost2022 G
PLXDC2     5-5186-003chr10:
20398752-20398752
TCintronicDe novo--Trost2022 G
PLXDC2     MSSNG00101-003chr10:
20404236-20404236
CTintronicDe novo--Trost2022 G
PLXDC2     AU054103chr10:
20288873-20288873
GAintronicDe novo--Yuen2017 G
PLXDC2     AU054103chr10:
20346319-20346319
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     AU4264302chr10:
20611095-20611095
ATintergenicDe novo--Yuen2017 G
PLXDC2     1-0485-003chr10:
20386323-20386323
CTintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     2-1075-003chr10:
20569005-20569005
CGUTR3De novo--Trost2022 G
PLXDC2     AU4219302chr10:
20755916-20755916
GAintergenicDe novo--Yuen2017 G
PLXDC2     1-0290-003chr10:
20836049-20836051
ACTAintergenicDe novo--Yuen2017 G
PLXDC2     1-1124-003chr10:
20557831-20557831
GAintronicDe novo--Trost2022 G
PLXDC2     1-1105-003chr10:
20559302-20559302
GAintronicDe novo--Trost2022 G
PLXDC2     AU072905chr10:
20231644-20231644
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     1-0068-003chr10:
20172348-20172348
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     2-1176-003chr10:
20696816-20696816
AGintergenicDe novo--Yuen2017 G
PLXDC2     1-0625-003chr10:
20835610-20835610
TTAACTCintergenicDe novo--Yuen2017 G
PLXDC2     2-1188-003chr10:
20127276-20127276
CTintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     1-0627-007chr10:
20433624-20433624
TCintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     AU4024303chr10:
20835075-20835075
TCintergenicDe novo--Yuen2017 G
PLXDC2     AU4024303chr10:
20835109-20835109
TCintergenicDe novo--Yuen2017 G
PLXDC2     1-0382-004chr10:
20151928-20151928
CGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     2-0158-003chr10:
20581163-20581163
TCintergenicDe novo--Yuen2017 G
PLXDC2     2-1185-003chr10:
20383692-20383692
CAintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     2-1173-003chr10:
20605438-20605438
GAintergenicDe novo--Yuen2017 G
PLXDC2     7-0002-003chr10:
20205212-20205212
TCintronicDe novo--Yuen2017 G
PLXDC2     2-1502-003chr10:
20663676-20663676
GAintergenicDe novo--Yuen2017 G
PLXDC2     5-0111-003chr10:
20564193-20564193
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     5-0050-004chr10:
20605469-20605469
AGintergenicDe novo--Yuen2017 G
PLXDC2     AU060803chr10:
20822117-20822117
CGintergenicDe novo--Yuen2017 G
PLXDC2     AU4327303chr10:
20521329-20521329
GAintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     AU4327303chr10:
20521331-20521331
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     1-0160-004chr10:
20755264-20755264
TCintergenicDe novo--Yuen2017 G
PLXDC2     AU024104chr10:
20820495-20820495
CTintergenicDe novo--Yuen2017 G
PLXDC2     1-0215-006chr10:
20307885-20307885
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     2-1153-003chr10:
20707731-20707731
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PLXDC2     AU2495302chr10:
20804320-20804320
GAintergenicDe novo--Yuen2017 G
PLXDC2     1-0385-003chr10:
20298351-20298351
GTintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     AU011704chr10:
20508634-20508634
ATintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     2-0208-003chr10:
20180171-20180171
AGintronicDe novo--Yuen2017 G
PLXDC2     1-0338-005chr10:
20205178-20205178
ACintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     1-0067-004chr10:
20456525-20456525
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     SP0030238chr10:
20534417-20534417
AGexonicDe novononsynonymous SNVNM_001282736
NM_032812
c.A1309G
c.A1456G
p.S437G
p.S486G
8.563-Feliciano2019 E
Fu2022 E
Zhou2022 GE
PLXDC2     AU3866301chr10:
20703541-20703541
TCintergenicDe novo--Yuen2017 G
PLXDC2     AU4122301chr10:
20340618-20340618
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     1-0032-003chr10:
20226617-20226617
ATintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     1-0032-003chr10:
20179595-20179595
CTintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     AU2123301chr10:
20541791-20541791
TCintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     5-0129-003chr10:
20432038-20432038
AGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     7-0032-003chr10:
20764990-20764990
AGintergenicDe novo--Yuen2017 G
PLXDC2     13298.p1chr10:
20700398-20700398
CGintergenicDe novo--Turner2016 G
PLXDC2     2-1644-003chr10:
20693236-20693236
CCAintergenicDe novo--Yuen2017 G
PLXDC2     1-0253-005chr10:
20687403-20687407
ATGACAintergenicDe novo--Yuen2017 G
PLXDC2     13874.p1chr10:
20127514-20127514
TAintronicDe novo--Turner2016 G
PLXDC2     1-0253-005chr10:
20266310-20266310
CGintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     14590.p1chr10:
20620752-20620752
AGintergenicDe novo--Turner2016 G
PLXDC2     AU4269301chr10:
20621093-20621093
CTintergenicDe novo--Yuen2017 G
PLXDC2     1-0526-003chr10:
20205230-20205230
AGintronicDe novo--Trost2022 G
PLXDC2     5-0017-003chr10:
20205235-20205235
TCintronicDe novo--Trost2022 G
PLXDC2     1-0526-003chr10:
20205219-20205225
GGCACCTCGTGAGCintronicDe novo--Trost2022 G
PLXDC2     2-0126-004chr10:
20535476-20535476
GGCCATGTTGGCCAGAintronicDe novo--Trost2022 G
Yuen2017 G
PLXDC2     5-0017-003chr10:
20205230-20205230
AGintronicDe novo--Trost2022 G
PLXDC2     REACH000189chr10:
20146468-20146468
TCintronicDe novo--Trost2022 G
PLXDC2     5-0017-003chr10:
20205219-20205225
GGCACCTCGTGAGCintronicDe novo--Trost2022 G
PLXDC2     7-0307-003chr10:
20107810-20107810
AGintronicDe novo--Trost2022 G
PLXDC2     2-1153-003chr10:
20218155-20218155
ATintronicDe novo--Yuen2017 G
PLXDC2     3-0454-000chr10:
20120499-20120499
CGintronicDe novo--Trost2022 G
PLXDC2     MSSNG00333-003chr10:
20242755-20242756
GTGintronicDe novo--Trost2022 G
PLXDC2     74-0117chr10:
20508634-20508634
ATintronicDe novo--Michaelson2012 G
PLXDC2     AU2109301chr10:
20660827-20660827
GTintergenicDe novo--Yuen2017 G
PLXDC2     7-0408-003chr10:
20266080-20266080
AGintronicDe novo--Trost2022 G
PLXDC2     1-0321-004chr10:
20205329-20205330
TACGintronicDe novo--Trost2022 G
PLXDC2     2-1114-003chr10:
20823863-20823863
TCintergenicDe novo--Yuen2017 G
PLXDC2     7-0452-003chr10:
20239124-20239124
GAintronicDe novo--Trost2022 G
PLXDC2     2-1382-003chr10:
20135886-20135886
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PLXDC2     5-0017-003chr10:
20205239-20205245
TCATTTTCintronicDe novo--Trost2022 G
PLXDC2     1-0321-004chr10:
20205325-20205325
AGintronicDe novo--Trost2022 G
PLXDC2     1-0004-003chr10:
20205235-20205235
TCintronicDe novo--Trost2022 G
PLXDC2     1-0526-003chr10:
20205235-20205235
TCintronicDe 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 notesView
More