Variant Results

or

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

MSSNG00040-003

chr15:
49431428-49431429

AT

A

intronic

De novo

-

Trost2022 G

COPS2

13630.p1

chr15:
49426122-49426122

C

T

intronic

De novo

-

4.169E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

COPS2

SSC08980

chr15:
49426122-49426122

C

T

intronic

De novo

-

4.169E-5

Fu2022 E
Trost2022 G

COPS2

10C109049

chr15:
49426143-49426143

G

A

exonic

De novo

nonsynonymous SNV

NM_001143887
NM_004236

c.C899T
c.C878T

p.P300L
p.P293L

32.0

-

Fu2022 E

COPS2

2-1562-004

chr15:
49434702-49434702

C

A

intronic

De novo

-

Trost2022 G

COPS2

2-1368-003

chr15:
49426143-49426143

G

A

exonic

De novo

nonsynonymous SNV

NM_001143887
NM_004236

c.C899T
c.C878T

p.P300L
p.P293L

32.0

-

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

COPS2

1-0452-005

chr15:
49439811-49439811

C

T

intronic

De novo

-

Trost2022 G

COPS2

AC02-1181-01

chr15:
49429353-49429353

C

T

exonic

De novo

synonymous SNV

NM_001143887
NM_004236

c.G555A
c.G534A

p.S185S
p.S178S

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COPS2

2-1375-003

chr15:
49446022-49446023

GC

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

COPS2

AU3865301

chr15:
49437549-49437549

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

COPS2

2-1386-003

chr15:
49442105-49442105

G

T

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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