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Results for "PLXND1"

Variant Events: 21

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
PLXND1     08C73163chr3:
129291803-129291803
GAintronicDe novo--Satterstrom2020 E
Trost2022 G
PLXND1     SP0065211chr3:
129290322-129290322
TAintronicDe novo--Fu2022 E
PLXND1     SP0103533chr3:
129280757-129280757
ACintronicDe novo--Fu2022 E
PLXND1     5-0025-004chr3:
129337139-129337139
AGintergenicDe novo--Yuen2017 G
PLXND1     AU046904chr3:
129338741-129338741
TGintergenicDe novo--Yuen2017 G
PLXND1     SP0006155chr3:
129292414-129292414
GAintronicDe novo--Fu2022 E
Trost2022 G
PLXND1     G01-GEA-159-HIchr3:
129278575-129278575
GCexonicDe novononsynonymous SNVNM_015103c.C5185Gp.R1729G13.458.283E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PLXND1     SP0083515chr3:
129284759-129284759
CAexonicDe novononsynonymous SNVNM_015103c.G4293Tp.E1431D19.59-Fu2022 E
Trost2022 G
Zhou2022 GE
PLXND1     SP0021712chr3:
129276076-129276076
GAintronicDe novo--Fu2022 E
Trost2022 G
PLXND1     1-0486-003chr3:
129346077-129346077
CAintergenicDe novo--Yuen2017 G
PLXND1     JASD_Fam0224chr3:
129289671-129289671
GAexonicDe novosynonymous SNVNM_015103c.C3708Tp.V1236V--Takata2018 E
PLXND1     3-0185-000chr3:
129281367-129281367
ACintronicDe novo--Trost2022 G
Yuen2017 G
PLXND1     F8997-1chr3:
129290378-129290378
CTexonicDe novononsynonymous SNVNM_015103c.G3310Ap.V1104I16.185.0E-4Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PLXND1     2-0297-003chr3:
129343706-129343706
CTintergenicDe novo--Yuen2017 G
PLXND1     7-0420-003chr3:
129298172-129298172
AGintronicDe novo--Trost2022 G
PLXND1     AU2293301chr3:
129293944-129293944
ACintronicDe novo--Trost2022 G
Yuen2017 G
PLXND1     AU030703chr3:
129351193-129351193
GTintergenicDe novo--Yuen2017 G
PLXND1     MT_21.3chr3:
129288297-129288297
CTintronicDe novo--Trost2022 G
PLXND1     3-0374-000chr3:
129296514-129296514
GAintronicDe novo--Trost2022 G
PLXND1     TRE_1374chr3:
129281952-129281952
GCexonicDe novononsynonymous SNVNM_015103c.C4653Gp.I1551M15.87-Fu2022 E
PLXND1     SMHC01028s000chr3:
129325266-129325266
GTexonicDe novononsynonymous SNVNM_015103c.C217Ap.L73M15.19-Yuan2023 E
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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