or
or
Exact

Results for "FBXL5"

Variant Events: 7

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
FBXL5     AU4234302chr4:
15651618-15651619
AGAintronicDe novo--Yuen2017 G
FBXL5     1-0049-004chr4:
15623588-15623588
ATintronicDe novo--Yuen2017 G
FBXL5     2-1276-003chr4:
15628227-15628227
AGintronicDe novo--Yuen2016 G
Yuen2017 G
FBXL5     PN400565chr4:
15613952-15613952
CAexonicUnknownnonsynonymous SNVNM_001193534
NM_001193535
NM_012161
c.G1933T
c.G1885T
c.G1936T
p.D645Y
p.D629Y
p.D646Y
31.0-Leblond2019 E
FBXL5     AU1860302chr4:
15673480-15673480
TCintergenicDe novo--Yuen2017 G
FBXL5     AU4149301chr4:
15674110-15674110
AGintergenicDe novo--Yuen2017 G
FBXL5     09C89851chr4:
15640246-15640246
TGexonicDe novosynonymous SNVNM_001193534
NM_001193535
NM_012161
c.A468C
c.A417C
c.A468C
p.A156A
p.A139A
p.A156A
10.64-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
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