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Results for "POU1F1"

Variant Events: 46

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
POU1F1     3-0447-000chr3:
87472339-87472339
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
POU1F1     A17chr3:
87495697-87495697
AGintergenicDe novo--Wu2018 G
POU1F1     2-0307-004chr3:
87575950-87575950
TTCTTTAintergenicDe novo--Yuen2017 G
POU1F1     7-0192-003chr3:
87451939-87451939
GAintergenicDe novo--Yuen2017 G
POU1F1     1-0756-003chr3:
87854686-87854686
AGintergenicDe novo--Yuen2017 G
POU1F1     AU046707chr3:
87622748-87622748
TCintergenicDe novo--Yuen2017 G
POU1F1     5-0050-004chr3:
87461447-87461447
GAintergenicDe novo--Yuen2017 G
POU1F1     AU3875301chr3:
87362814-87362814
CTintergenicDe novo--Yuen2017 G
POU1F1     2-1386-003chr3:
87508232-87508232
AGintergenicDe novo--Yuen2017 G
POU1F1     AU050910chr3:
87610584-87610584
CTintergenicDe novo--Yuen2017 G
POU1F1     AU3702306chr3:
87701589-87701589
GAintergenicDe novo--Yuen2017 G
POU1F1     13951.p1chr3:
87716912-87716912
CAintergenicDe novo--Turner2016 G
POU1F1     AU024606chr3:
87430465-87430465
CAintergenicDe novo--Yuen2017 G
POU1F1     AU1668302chr3:
87750183-87750183
GCintergenicDe novo--Yuen2017 G
POU1F1     1-0181-004chr3:
87561694-87561694
ATintergenicDe novo--Yuen2017 G
POU1F1     3-0246-000chr3:
87490914-87490914
CTintergenicDe novo--Yuen2017 G
POU1F1     1-0489-003chr3:
88006518-88006518
ATintergenicDe novo--Yuen2017 G
POU1F1     2-1620-004chr3:
87493538-87493542
TAACATintergenicDe novo--Yuen2017 G
POU1F1     AU4197301chr3:
87475699-87475699
GCintergenicDe novo--Yuen2017 G
POU1F1     1-0285-003chr3:
87725328-87725328
TCintergenicDe novo--Yuen2017 G
POU1F1     AU3964302chr3:
87873174-87873174
CGintergenicDe novo--Yuen2017 G
POU1F1     AU059903chr3:
88008041-88008057
AACCACCACCACCACCAAACCACCACCACCAintergenicDe novo--Yuen2017 G
POU1F1     1-0141-003chr3:
87413530-87413530
GAintergenicDe novo--Yuen2017 G
POU1F1     2-1231-003chr3:
87818651-87818651
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
POU1F1     AU1223303chr3:
87516831-87516831
GAintergenicDe novo--Yuen2017 G
POU1F1     AU4228301chr3:
87867201-87867201
ATintergenicDe novo--Yuen2017 G
POU1F1     1-0595-005chr3:
87518054-87518054
GTintergenicDe novo--Yuen2017 G
POU1F1     2-0307-003chr3:
87575950-87575950
TTCTTTAintergenicDe novo--Yuen2017 G
POU1F1     2-1094-005chr3:
87650908-87650908
GAintergenicDe novo--Yuen2017 G
POU1F1     AU3721302chr3:
87556807-87556807
GAintergenicDe novo--Yuen2017 G
POU1F1     1-0325-003chr3:
87664610-87664610
CAintergenicDe novo--Yuen2017 G
POU1F1     1-0595-005chr3:
87783583-87783583
GAintergenicDe novo--Yuen2017 G
POU1F1     7-0256-003chr3:
87374103-87374103
CAintergenicDe novo--Yuen2017 G
POU1F1     1-0518-003chr3:
87469420-87469420
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
POU1F1     2-0018-004chr3:
87761532-87761532
TCintergenicDe novo--Yuen2017 G
POU1F1     1-0567-004chr3:
87650908-87650908
GAintergenicDe novo--Yuen2017 G
POU1F1     1-0925-003chr3:
87788355-87788355
CTintergenicDe novo--Yuen2017 G
POU1F1     2-1436-003chr3:
87833338-87833338
GTintergenicDe novo--Yuen2017 G
POU1F1     AU051504chr3:
87972767-87972767
AGintergenicDe novo--Yuen2017 G
POU1F1     2-1577-003chr3:
87964584-87964584
AGintergenicDe novo--Yuen2017 G
POU1F1     7-0219-003chr3:
87328913-87328913
TCintergenicDe novo--Yuen2017 G
POU1F1     7-0100-004chr3:
87543570-87543570
AGintergenicDe novo--Yuen2017 G
POU1F1     1-0377-003chr3:
87969933-87969933
ATintergenicDe novo--Yuen2017 G
POU1F1     2-1480-003chr3:
88009882-88009882
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
POU1F1     1-0112-003chr3:
87752381-87752381
ATintergenicDe novo--Yuen2017 G
POU1F1     1-0533-003chr3:
87975410-87975410
TCintergenicDe 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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