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Results for "PRAG1"

Variant Events: 39

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
PRAG1     AU1668302chr8:
8378562-8378562
CAintergenicDe novo--Yuen2017 G
PRAG1     7-0249-004chr8:
8266859-8266859
TCintergenicDe novo--Yuen2017 G
PRAG1     AU076704chr8:
8453325-8453325
ACintergenicDe novo--Yuen2017 G
PRAG1     1-0169-004chr8:
8393379-8393379
ACintergenicDe novo--Yuen2017 G
PRAG1     1-0139-003chr8:
8444185-8444185
GAintergenicDe novo--Yuen2017 G
PRAG1     SP0108710chr8:
8235668-8235668
GCintronicDe novo--Fu2022 E
PRAG1     2-0149-005chr8:
8398670-8398670
GAintergenicDe novo--Yuen2017 G
PRAG1     2-1336-004chr8:
8336740-8336740
GTintergenicDe novo--Yuen2017 G
PRAG1     Cukier2014:17545chr8:
8185746-8185746
TCexonicUnknownnonsynonymous SNVNM_001080826c.A2546Gp.H849R17.730.0103Cukier2014 E
PRAG1     09C99952chr8:
8239148-8239148
CTexonicDe novononsynonymous SNVNM_001080826c.G110Ap.R37Q19.218.34E-5Fu2022 E
Satterstrom2020 E
PRAG1     7-0128-003chr8:
8399635-8399635
GCintergenicDe novo--Yuen2017 G
PRAG1     2-1383-003chr8:
8328823-8328823
CTintergenicDe novo--Yuen2017 G
PRAG1     1-0488-003chr8:
8516973-8516975
ATTATintergenicDe novo--Yuen2017 G
PRAG1     12449.p1chr8:
8549276-8549276
CAintergenicDe novo--Turner2016 G
PRAG1     1-0757-003chr8:
8530709-8530709
CTintergenicDe novo--Yuen2017 G
PRAG1     1-0898-003chr8:
8188620-8188620
CTintronicDe novo--Yuen2017 G
PRAG1     7-0128-003chr8:
8402648-8402648
GAintergenicDe novo--Yuen2017 G
PRAG1     2-1290-003chr8:
8239148-8239148
CTexonicDe novononsynonymous SNVNM_001080826c.G110Ap.R37Q19.218.34E-5Yuen2017 G
PRAG1     2-1632-003chr8:
8536587-8536587
GAintergenicDe novo--Yuen2017 G
PRAG1     AU1742302chr8:
8490130-8490130
GAintergenicDe novo--Yuen2017 G
PRAG1     AU046904chr8:
8308000-8308000
TAintergenicDe novo--Yuen2017 G
PRAG1     1-0144-004chr8:
8417083-8417083
ATintergenicDe novo--Yuen2017 G
PRAG1     AU4239301chr8:
8481168-8481168
CTintergenicDe novo--Yuen2017 G
PRAG1     2-1456-004chr8:
8315867-8315867
AGintergenicDe novo--Yuen2017 G
PRAG1     13926.p1chr8:
8176178-8176178
GCexonicDe novononsynonymous SNVNM_001080826c.C3707Gp.A1236G27.3-Satterstrom2020 E
PRAG1     AU065304chr8:
8511624-8511624
CTintergenicDe novo--Yuen2017 G
PRAG1     2-0309-004chr8:
8409860-8409860
CAintergenicDe novo--Yuen2017 G
PRAG1     A9chr8:
8185509-8185509
GAexonicDe novononsynonymous SNVNM_001080826c.C2783Tp.S928F15.328.823E-6Jiao2019 E
PRAG1     2-1426-003chr8:
8436073-8436079
ACCCCCCACCCCCCCintergenicDe novo--Yuen2017 G
PRAG1     7-0133-003chr8:
8463985-8463985
GAintergenicDe novo--Yuen2017 G
PRAG1     AU1952305chr8:
8192173-8192173
AGintronicDe novo--Yuen2017 G
PRAG1     2-1127-003chr8:
8217370-8217370
CGintronicDe novo--Yuen2016 G
Yuen2017 G
PRAG1     7-0127-003chr8:
8404744-8404744
GCintergenicDe novo--Yuen2017 G
PRAG1     7-0127-003chr8:
8405299-8405299
TAintergenicDe novo--Yuen2017 G
PRAG1     AU012804chr8:
8522766-8522766
CTintergenicDe novo--Yuen2017 G
PRAG1     AU4092302chr8:
8300607-8300607
GAintergenicDe novo--Yuen2017 G
PRAG1     2-1127-003chr8:
8214555-8214555
GCintronicDe novo--Yuen2016 G
Yuen2017 G
PRAG1     2-1127-003chr8:
8214692-8214692
GCintronicDe novo--Yuen2016 G
Yuen2017 G
PRAG1     AU3808305chr8:
8315426-8315426
GAintergenicDe 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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