or
or
Exact

Results for "XPO1"

Variant Events: 24

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
XPO1     2-1382-003chr2:
61825135-61825135
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
XPO1     2-1440-003chr2:
61720628-61720628
CTintronicDe novo--Yuen2016 G
Yuen2017 G
XPO1     2-1382-003chr2:
61813557-61813557
GCintergenicDe novo--Yuen2017 G
XPO1     2-1382-003chr2:
61856600-61856600
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
XPO1     Lim2017:12052chr2:
61726859-61726859
ACexonicDe novononsynonymous SNVNM_003400c.T579Gp.H193Q16.75-Lim2017 E
XPO1     1-0558-003chr2:
61742297-61742297
GCintronicDe novo--Yuen2017 G
XPO1     2-1382-003chr2:
61801826-61801826
GCintergenicDe novo--Yuen2017 G
XPO1     AU1848302chr2:
61792998-61792998
GAintergenicDe novo--Yuen2017 G
XPO1     AU3761302chr2:
61790974-61790974
GAintergenicDe novo--Yuen2017 G
XPO1     AU1848302chr2:
61790912-61790912
TCintergenicDe novo--Yuen2017 G
XPO1     AU1848302chr2:
61792111-61792111
TCintergenicDe novo--Yuen2017 G
XPO1     1-0155-003chr2:
62019450-62019450
CGintergenicDe novo--Yuen2017 G
XPO1     11456.p1chr2:
61813263-61813263
AGintergenicDe novo--Turner2016 G
XPO1     2-0238-003chr2:
61773959-61773959
GTintergenicDe novo--Yuen2017 G
XPO1     2-1497-003chr2:
61910293-61910293
TGintergenicDe novo--Yuen2017 G
XPO1     1-0253-004chr2:
61753938-61753938
GCintronicDe novo--Yuen2017 G
XPO1     1-0507-003chr2:
61985945-61985945
TAintergenicDe novo--Yuen2017 G
XPO1     258-07-108397chr2:
61725911-61725911
GAexonicDe novononsynonymous SNVNM_003400c.C656Tp.A219V20.3-Satterstrom2020 E
XPO1     AU3891304chr2:
61870993-61870993
TCintergenicDe novo--Yuen2017 G
XPO1     1-1000-003chr2:
61877612-61877617
TCACACTCACintergenicDe novo--Yuen2017 G
XPO1     AU060004chr2:
61913002-61913002
TCintergenicDe novo--Yuen2017 G
XPO1     12052chr2:
61726859-61726859
ACexonicDe novononsynonymous SNVNM_003400c.T579Gp.H193Q16.75-Satterstrom2020 E
XPO1     A18chr2:
61704940-61704941
AGAdownstreamDe novo--Wu2018 G
XPO1     AU2485305chr2:
61977283-61977283
TAintergenicDe novo--Yuen2017 G
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