Variant Results

or

Results for "CPNE2"

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

CPNE2

1-0191-004

chr16:
57159851-57159851

A

G

exonic

De novo

nonsynonymous SNV

NM_152727

c.A1007G

p.N336S

23.6

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CPNE2

09C81774

chr16:
57147196-57147196

C

A

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CPNE2

SP0007998

chr16:
57181458-57181458

T

A

intronic

De novo

-

8.437E-6

Trost2022 G

CPNE2

SSC02127

chr16:
57157401-57157401

C

T

intronic

De novo

-

Trost2022 G

CPNE2

SP0062253

chr16:
57181448-57181448

T

A

intronic

De novo

-

Trost2022 G

CPNE2

2-1132-003

chr16:
57134260-57134260

G

A

intronic

De novo

-

Trost2022 G

CPNE2

MSSNG00339-004

chr16:
57155577-57155577

G

C

intronic

De novo

-

Trost2022 G

CPNE2

2-1288-003

chr16:
57130246-57130246

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CPNE2

AU1987304

chr16:
57143217-57143217

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CPNE2

11429.p1

chr16:
57157401-57157401

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CPNE2

JASD_Fam0236

chr16:
57157358-57157358

C

G

exonic

De novo

nonsynonymous SNV

NM_152727

c.C900G

p.I300M

15.2

-

Takata2018 E

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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