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Results for "XPO4"

Variant Events: 15

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
XPO4     13017.p1chr13:
21370323-21370323
GAexonicDe novostopgainNM_022459c.C2689Tp.Q897X39.0-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
XPO4     2-0149-005chr13:
21358314-21358315
AGAintronicDe novo--Yuen2017 G
XPO4     AU0540301chr13:
21386600-21386600
GAintronicDe novo--Yuen2017 G
XPO4     AU3761301chr13:
21469270-21469270
TCintronicDe novo--Yuen2017 G
XPO4     2-1297-004chr13:
21498816-21498816
AAGGGintergenicDe novo--Yuen2017 G
XPO4     PN400530chr13:
21395866-21395866
GAexonicUnknownstopgainNM_022459c.C1150Tp.R384X37.0-Leblond2019 E
XPO4     11089.p1chr13:
21354728-21354728
GCUTR3De novo--Turner2016 G
XPO4     1-0126-004chr13:
21416451-21416451
CTintronicDe novo--Yuen2017 G
XPO4     11969.p1chr13:
21375125-21375125
ACexonicDe novononsynonymous SNVNM_022459c.T1822Gp.L608V3.6812.0E-4Satterstrom2020 E
XPO4     AU0452304chr13:
21429353-21429353
GAintronicDe novo--Yuen2017 G
XPO4     13143.p1chr13:
21496579-21496579
CTintergenicDe novo--Wilfert2021 G
XPO4     2-1205-003chr13:
21371657-21371657
TCintronicDe novo--Yuen2016 G
Yuen2017 G
XPO4     2-1290-003chr13:
21503832-21503832
CTintergenicDe novo--Yuen2017 G
XPO4     AU3729303chr13:
21497106-21497106
TCintergenicDe novo--Yuen2017 G
XPO4     AU1542303chr13:
21387146-21387146
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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