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Results for "FBXL2"

Variant Events: 11

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
FBXL2     2-1456-003chr3:
33338244-33338244
TGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL2     7-0051-003chr3:
33404366-33404366
CTintronicDe novo--Trost2022 G
FBXL2     13946.p1chr3:
33327349-33327349
GAintronicDe novo--Turner2016 G
FBXL2     1-0593-003chr3:
33326055-33326055
CTintronicDe novo--Trost2022 G
Yuen2017 G
FBXL2     1-1035-003chr3:
33341653-33341653
AGintronicDe novo--Trost2022 G
FBXL2     MSSNG00328-003chr3:
33380213-33380213
CCATintronicDe novo--Trost2022 G
FBXL2     SMHC00860sfd0chr3:
33415081-33415081
GAexonicDe novononsynonymous SNVNM_012157c.G467Ap.R156Q28.0-Yuan2023 E
FBXL2     1-0629-003chr3:
33371061-33371061
GAintronicDe novo--Trost2022 G
Yuen2017 G
FBXL2     7-0068-003chr3:
33356612-33356612
AGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL2     SP0029297chr3:
33419640-33419640
GCsplicingDe novosplicing26.6-Fu2022 E
Trost2022 G
Zhou2022 GE
FBXL2     2-1280-003chr3:
33342419-33342419
TCintronicDe novo--Trost2022 G
Yuen2017 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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