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Results for "CREB1"

Variant Events: 25

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
CREB1     AU048206chr2:
208135659-208135659
CTintergenicDe novo--Yuen2017 G
CREB1     AU2988302chr2:
208160579-208160579
CAintergenicDe novo--Yuen2017 G
CREB1     AU4060306chr2:
208282071-208282071
CTintergenicDe novo--Yuen2017 G
CREB1     AU071804chr2:
208376002-208376002
GAintergenicDe novo--Yuen2017 G
CREB1     AU2988303chr2:
208160579-208160579
CAintergenicDe novo--Yuen2017 G
CREB1     1-0406-003chr2:
208279446-208279446
AATintergenicDe novo--Yuen2017 G
CREB1     2-1154-003chr2:
208457710-208457710
TCintronicDe novo--Trost2022 G
Trost2022 G
Yuen2016 G
Yuen2017 G
CREB1     13298.p1chr2:
208407864-208407864
CGintronicDe novo--Turner2016 G
CREB1     AU047703chr2:
208267658-208267658
TCintergenicDe novo--Yuen2017 G
CREB1     AU011704chr2:
208205955-208205955
ACintergenicDe novo--Yuen2017 G
CREB1     2-1299-003chr2:
208135473-208135473
GAintergenicDe novo--Yuen2017 G
CREB1     2-1378-003chr2:
208213595-208213595
TCintergenicDe novo--Yuen2017 G
CREB1     AU2137304chr2:
208231641-208231641
GAintergenicDe novo--Yuen2017 G
CREB1     MSSNG00042-003chr2:
208462087-208462087
TCUTR3De novo--Trost2022 G
Trost2022 G
CREB1     1-0565-003chr2:
208421807-208421807
ACCintronicDe novo--Trost2022 G
CREB1     3-0621-000Achr2:
208430500-208430500
GCintronicDe novo--Trost2022 G
CREB1     AU2075302chr2:
208365165-208365165
TCintergenicDe novo--Yuen2017 G
CREB1     MSSNG00212-003chr2:
208409627-208409627
GAintronicDe novo--Trost2022 G
CREB1     1-1063-003chr2:
208413628-208413628
AGintronicDe novo--Trost2022 G
CREB1     74-0117chr2:
208205955-208205955
ACintergenicDe novo--Michaelson2012 G
CREB1     5-0014-004chr2:
208406004-208406007
ATGTAintronicDe novo--Trost2022 G
Yuen2017 G
CREB1     AU4260303chr2:
208324732-208324732
GTintergenicDe novo--Yuen2017 G
CREB1     MSSNG00027-004chr2:
208400063-208400063
TGintronicDe novo--Trost2022 G
CREB1     2-1617-003chr2:
208148322-208148322
TCintergenicDe novo--Yuen2017 G
CREB1     AU3911302chr2:
208277072-208277072
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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