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Results for "PLXNA2"

Variant Events: 64

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
PLXNA2     AU4154303chr1:
209309633-209309633
GAintergenicDe novo--Yuen2017 G
PLXNA2     2-1182-003chr1:
209505745-209505745
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PLXNA2     AU3713302chr1:
208660925-208660925
CTintergenicDe novo--Yuen2017 G
PLXNA2     2-1173-003chr1:
208240910-208240910
CTintronicDe novo--Yuen2017 G
PLXNA2     AU4444304chr1:
208656663-208656663
AGintergenicDe novo--Yuen2017 G
PLXNA2     1-0551-003chr1:
208449106-208449106
GAintergenicDe novo--Yuen2017 G
PLXNA2     1-0104-003chr1:
209037553-209037553
GAintergenicDe novo--Yuen2017 G
PLXNA2     AU2569303chr1:
208577463-208577463
GAintergenicDe novo--Yuen2017 G
PLXNA2     SP0027605chr1:
208201505-208201505
CAsplicingDe novosplicing23.0-Feliciano2019 E
PLXNA2     14356.p1chr1:
208391105-208391105
CTexonicDe novononsynonymous SNVNM_025179c.G163Ap.V55I15.55-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PLXNA2     5-0025-003chr1:
209115324-209115324
GAintergenicDe novo--Yuen2017 G
PLXNA2     AU2569303chr1:
208508005-208508005
ACintergenicDe novo--Yuen2017 G
PLXNA2     1-0417-003chr1:
209018053-209018053
GAintergenicDe novo--Yuen2017 G
PLXNA2     200675486@1082035020chr1:
208215447-208215447
GAexonicDe novononsynonymous SNVNM_025179c.C4282Tp.R1428W25.1-Satterstrom2020 E
PLXNA2     2-1341-004chr1:
208669231-208669231
GCintergenicDe novo--Yuen2017 G
PLXNA2     5-0131-003chr1:
209284409-209284409
GAintergenicDe novo--Yuen2017 G
PLXNA2     1-0585-003chr1:
209312806-209312806
CTintergenicDe novo--Yuen2017 G
PLXNA2     AU056604chr1:
208307733-208307733
GAintronicDe novo--Yuen2017 G
PLXNA2     AU3637301chr1:
208589825-208589825
CAintergenicDe novo--Yuen2017 G
PLXNA2     AU3790301chr1:
208288686-208288686
CTintronicDe novo--Yuen2017 G
PLXNA2     1-0555-003chr1:
209517622-209517622
GAintergenicDe novo--Yuen2017 G
PLXNA2     2-1066-003chr1:
208835879-208835879
CTintergenicDe novo--Yuen2017 G
PLXNA2     2-1116-003chr1:
208431041-208431044
TGTGTintergenicDe novo--Yuen2017 G
PLXNA2     2-1427-003chr1:
209232273-209232273
TGintergenicDe novo--Yuen2017 G
PLXNA2     AU3903301chr1:
209068345-209068345
TAintergenicDe novo--Yuen2017 G
PLXNA2     1-0051-005chr1:
209483813-209483813
ACintergenicDe novo--Yuen2017 G
PLXNA2     2-1322-003chr1:
209567733-209567733
CAintergenicDe novo--Yuen2017 G
PLXNA2     1-0446-003chr1:
208429494-208429494
TCintergenicDe novo--Yuen2017 G
PLXNA2     2-1168-003chr1:
209378916-209378916
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PLXNA2     1-0868-003chr1:
208819430-208819430
AGintergenicDe novo--Yuen2017 G
PLXNA2     5-0077-004chr1:
209055037-209055037
GAintergenicDe novo--Yuen2017 G
PLXNA2     1-0126-004chr1:
208503208-208503208
GGTAintergenicDe novo--Yuen2017 G
PLXNA2     AU3122301chr1:
208429982-208429982
CTintergenicDe novo--Yuen2017 G
PLXNA2     2-1297-004chr1:
208558004-208558004
TCintergenicDe novo--Yuen2017 G
PLXNA2     1-0553-003chr1:
209031267-209031267
ACintergenicDe novo--Yuen2017 G
PLXNA2     2-0323-003chr1:
208346901-208346901
TAintronicDe novo--Yuen2017 G
PLXNA2     2-1194-003chr1:
209382853-209382853
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PLXNA2     7-0080-003chr1:
208818407-208818407
GCintergenicDe novo--Yuen2017 G
PLXNA2     1408001chr1:
208215566-208215566
GAexonicDe novononsynonymous SNVNM_025179c.C4163Tp.S1388L36.0-Satterstrom2020 E
PLXNA2     7-0168-003chr1:
209491988-209491988
TCintergenicDe novo--Yuen2017 G
PLXNA2     1-0772-003chr1:
208847798-208847798
TGintergenicDe novo--Yuen2017 G
PLXNA2     A8chr1:
208620418-208620418
GCintergenicDe novo--Wu2018 G
PLXNA2     AU4235303chr1:
209054312-209054312
AGintergenicDe novo--Yuen2017 G
PLXNA2     1-0158-003chr1:
209328162-209328162
CTintergenicDe novo--Yuen2017 G
PLXNA2     1-0485-003chr1:
209330690-209330690
TCintergenicDe novo--Yuen2017 G
PLXNA2     AU3885305chr1:
208797773-208797773
GAintergenicDe novo--Yuen2017 G
PLXNA2     AU3906301chr1:
208332377-208332377
TCintronicDe novo--Yuen2017 G
PLXNA2     5-0033-004chr1:
208360817-208360817
CTintronicDe novo--Yuen2017 G
PLXNA2     2-1477-003chr1:
208333250-208333250
CTintronicDe novo--Yuen2016 G
PLXNA2     3-0169-000chr1:
208242756-208242756
GTintronicDe novo--Yuen2016 G
PLXNA2     1-0906-003chr1:
209312015-209312015
TCintergenicDe novo--Yuen2017 G
PLXNA2     7-0102-003chr1:
208444245-208444245
GTintergenicDe novo--Yuen2017 G
PLXNA2     2-1382-003chr1:
208559866-208559866
GAintergenicDe novo--Yuen2016 G
PLXNA2     AU072004chr1:
208599381-208599381
TCintergenicDe novo--Yuen2017 G
PLXNA2     2-1138-003chr1:
208925867-208925868
AGAGGGintergenicDe novo--Yuen2017 G
PLXNA2     AU3857301chr1:
208490514-208490517
AATAAATATAintergenicDe novo--Yuen2017 G
PLXNA2     AU2787301chr1:
208810099-208810099
GAintergenicDe novo--Yuen2017 G
PLXNA2     AU4365302chr1:
208537052-208537052
CTintergenicDe novo--Yuen2017 G
PLXNA2     1-0259-003chr1:
208432691-208432691
GAintergenicDe novo--Yuen2017 G
PLXNA2     1-0045-003chr1:
209170583-209170583
AGintergenicDe novo--Yuen2017 G
PLXNA2     AU3907302chr1:
208366695-208366695
GAintronicDe novo--Yuen2017 G
PLXNA2     2-0310-004chr1:
208303471-208303471
GCintronicDe novo--Yuen2017 G
PLXNA2     2-1163-003chr1:
208440630-208440630
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PLXNA2     13037.p1chr1:
209059183-209059183
TGintergenicDe novo--Wilfert2021 G
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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