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Results for "FBXO36"

Variant Events: 9

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
FBXO36     AU2437302chr2:
230835733-230835733
TGintronicDe novo--Yuen2017 G
FBXO36     2-1529-003chr2:
230874262-230874262
TCintronicDe novo--Yuen2017 G
FBXO36     2-0102-004chr2:
230857162-230857162
CGintronicDe novo--Yuen2017 G
FBXO36     G01-GEA-8-HIchr2:
230861436-230861436
TAintronicDe novo--Satterstrom2020 E
FBXO36     1-0277-003chr2:
230888871-230888871
GCintergenicDe novo--Yuen2016 G
FBXO36     Cukier2014:37425chr2:
230841011-230841011
CTexonicUnknownnonsynonymous SNVNM_174899c.C151Tp.P51S23.60.0048Cukier2014 E
FBXO36     1-0277-003chr2:
230848458-230848458
GCintronicDe novo--Yuen2017 G
FBXO36     AU4463303chr2:
230787443-230787443
CGintronicDe novo--Yuen2017 G
FBXO36     AU045514chr2:
230806460-230806460
CTintronicDe novo--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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