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Results for "CPEB2"

Variant Events: 7

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
CPEB2     111308chr4:
15004401-15004401
CTexonicnonsynonymous SNVNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646
c.C104T
c.C104T
c.C104T
c.C104T
c.C104T
c.C104T
p.S35F
p.S35F
p.S35F
p.S35F
p.S35F
p.S35F
6.321-Woodbury-Smith2022 E
CPEB2     Wang2023:472chr4:
15005577-15005577
CAexonicDe novononsynonymous SNVNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646
c.C1280A
c.C1280A
c.C1280A
c.C1280A
c.C1280A
c.C1280A
p.P427Q
p.P427Q
p.P427Q
p.P427Q
p.P427Q
p.P427Q
7.469-Wang2023 E
CPEB2     SP0013605chr4:
15005521-15005533
ACCCCAGCAGCCGAexonicnonframeshift deletionNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646
c.1225_1236del
c.1225_1236del
c.1225_1236del
c.1225_1236del
c.1225_1236del
c.1225_1236del
p.409_412del
p.409_412del
p.409_412del
p.409_412del
p.409_412del
p.409_412del
--Zhou2022 GE
CPEB2     mAGRE1992chr4:
15005208-15005208
CAexonicMaternalstopgainNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646
c.C911A
c.C911A
c.C911A
c.C911A
c.C911A
c.C911A
p.S304X
p.S304X
p.S304X
p.S304X
p.S304X
p.S304X
24.6-Cirnigliaro2023 G
CPEB2     mAGRE1991chr4:
15005208-15005208
CAexonicMaternalstopgainNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646
c.C911A
c.C911A
c.C911A
c.C911A
c.C911A
c.C911A
p.S304X
p.S304X
p.S304X
p.S304X
p.S304X
p.S304X
24.6-Cirnigliaro2023 G
CPEB2     SP0208123chr4:
15004947-15004947
CAexonicDe novononsynonymous SNVNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646
c.C650A
c.C650A
c.C650A
c.C650A
c.C650A
c.C650A
p.P217Q
p.P217Q
p.P217Q
p.P217Q
p.P217Q
p.P217Q
7.725-Trost2022 G
CPEB2     mAGRE4622chr4:
15004731-15004732
ACAexonicPaternalframeshift deletionNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646
c.435delC
c.435delC
c.435delC
c.435delC
c.435delC
c.435delC
p.H145fs
p.H145fs
p.H145fs
p.H145fs
p.H145fs
p.H145fs
--Cirnigliaro2023 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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