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Results for "PREX1"

Variant Events: 26

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
PREX1     AU046904chr20:
47390177-47390177
GAintronicDe novo--Yuen2017 G
PREX1     2-1300-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PREX1     2-1407-003chr20:
47478489-47478489
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PREX1     7-0095-004chr20:
47465820-47465820
CTintergenicDe novo--Yuen2017 G
PREX1     AU1404302chr20:
47416193-47416193
ACintronicDe novo--Yuen2017 G
PREX1     1-0139-005chr20:
47535172-47535172
AGintergenicDe novo--Yuen2017 G
PREX1     1-0218-003chr20:
47422683-47422683
CTintronicDe novo--Yuen2017 G
PREX1     1-0452-003chr20:
47247795-47247795
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PREX1     4B858chr20:
47253073-47253073
GAexonicDe novosynonymous SNVNM_020820c.C4095Tp.R1365R--Satterstrom2020 E
PREX1     2-0090-003chr20:
47393555-47393555
TGintronicDe novo--Yuen2017 G
PREX1     1-0453-003chr20:
47388158-47388158
GAintronicDe novo--Yuen2017 G
PREX1     AU3997302chr20:
47330045-47330045
GTintronicDe novo--Yuen2017 G
PREX1     AU2129303chr20:
47317727-47317732
GTATATGTATATATintronicDe novo--Yuen2017 G
PREX1     AU3907302chr20:
47308181-47308181
GCintronicDe novo--Yuen2017 G
PREX1     2-1502-003chr20:
47411548-47411548
TAintronicDe novo--Yuen2017 G
PREX1     1-0261-004chr20:
47438633-47438633
TCintronicDe novo--Yuen2017 G
PREX1     SJD_10chr20:
47271842-47271842
TCexonicMaternalnonsynonymous SNVNM_020820c.A2195Gp.Y732C14.754.563E-5Toma2013 E
PREX1     G01-GEA-289-HIchr20:
47295908-47295908
GAexonicDe novononsynonymous SNVNM_020820c.C1579Tp.P527S22.5-Satterstrom2020 E
PREX1     11341.p1chr20:
47361714-47361714
CTintronicDe novo-0.0016Turner2016 G
PREX1     SP0001571chr20:
47309210-47309210
CGexonicDe novononsynonymous SNVNM_020820c.G1036Cp.A346P33.0-Feliciano2019 E
PREX1     2-1459-003chr20:
47520856-47520856
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PREX1     2-0110-003chr20:
47391335-47391335
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PREX1     5-0065-003chr20:
47399259-47399259
GAintronicDe novo--Yuen2017 G
PREX1     1-0389-004chr20:
47496985-47496985
AGintergenicDe novo--Yuen2017 G
PREX1     2-1148-004chr20:
47290227-47290227
AACintronicDe novo--Yuen2017 G
PREX1     1-0353-003chr20:
47500437-47500437
GTintergenicDe 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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