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Results for "COPS2"

Variant Events: 11

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
COPS2     MSSNG00040-003chr15:
49431428-49431429
ATAintronicDe novo--Trost2022 G
COPS2     13630.p1chr15:
49426122-49426122
CTintronicDe novo-4.169E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
COPS2     SSC08980chr15:
49426122-49426122
CTintronicDe novo-4.169E-5Fu2022 E
Trost2022 G
COPS2     AC02-1181-01chr15:
49429353-49429353
CTexonicDe novosynonymous SNVNM_001143887
NM_004236
c.G555A
c.G534A
p.S185S
p.S178S
--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
COPS2     10C109049chr15:
49426143-49426143
GAexonicDe novononsynonymous SNVNM_001143887
NM_004236
c.C899T
c.C878T
p.P300L
p.P293L
32.0-Fu2022 E
COPS2     2-1375-003chr15:
49446022-49446023
GCGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
COPS2     AU3865301chr15:
49437549-49437549
AGintronicDe novo--Trost2022 G
Yuen2017 G
COPS2     2-1562-004chr15:
49434702-49434702
CAintronicDe novo--Trost2022 G
COPS2     2-1368-003chr15:
49426143-49426143
GAexonicDe novononsynonymous SNVNM_001143887
NM_004236
c.C899T
c.C878T
p.P300L
p.P293L
32.0-Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE
COPS2     2-1386-003chr15:
49442105-49442105
GTintronicDe novo--Yuen2017 G
COPS2     1-0452-005chr15:
49439811-49439811
CTintronicDe novo--Trost2022 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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