Variant Results

or

or

Results for "CPED1"

Variant Events: 26

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

CPED1

AU4273304

chr7:
120739204-120739204

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

2-1138-003

chr7:
120758135-120758135

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

2-0198-004

chr7:
120820171-120820171

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

AU4032306

chr7:
120920052-120920052

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

mAGRE4103

chr7:
120935523-120935525

TAA

T

exonic

Paternal

frameshift deletion

NM_024913

c.2899_2900del

p.N967fs

-

Cirnigliaro2023 G

CPED1

AU003406

chr7:
120828035-120828035

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

mAGRE4102

chr7:
120935523-120935525

TAA

T

exonic

Paternal

frameshift deletion

NM_024913

c.2899_2900del

p.N967fs

-

Cirnigliaro2023 G

CPED1

mAGRE6069

chr7:
120686957-120686957

G

A

exonic

Paternal

stopgain

NM_001105533
NM_024913

c.G450A
c.G450A

p.W150X
p.W150X

18.17

-

Cirnigliaro2023 G

CPED1

AU3371301

chr7:
120633224-120633224

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

2-0198-003

chr7:
120820171-120820171

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

SP0042222

chr7:
120876852-120876852

G

A

exonic

De novo

nonsynonymous SNV

NM_001105533
NM_024913

c.G2140A
c.G2140A

p.E714K
p.E714K

14.47

-

Fu2022 E
Zhou2022 GE

CPED1

13874.p1

chr7:
120687801-120687801

A

C

intronic

De novo

-

-

Turner2016 G

CPED1

2-0310-004

chr7:
120909016-120909016

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

2-1153-003

chr7:
120751089-120751089

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

AU4223302

chr7:
120828156-120828156

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

7-0457-003

chr7:
120817684-120817684

A

G

intronic

De novo

-

-

Trost2022 G

CPED1

1-1131-003

chr7:
120873331-120873331

T

C

intronic

De novo

-

-

Trost2022 G

CPED1

MSSNG00251-003

chr7:
120799427-120799427

A

G

intronic

De novo

-

-

Trost2022 G

CPED1

2-0198-005

chr7:
120820171-120820171

T

G

intronic

De novo

-

-

Yuen2017 G

CPED1

SJD_8.4

chr7:
120804419-120804419

C

T

intronic

De novo

-

-

Trost2022 G

CPED1

2-1818-003

chr7:
120790570-120790570

C

G

intronic

De novo

-

-

Trost2022 G

CPED1

MSSNG00219-003

chr7:
120798617-120798617

C

A

intronic

De novo

-

-

Trost2022 G

CPED1

MSSNG00439-003

chr7:
120725387-120725387

G

C

intronic

De novo

-

-

Trost2022 G

CPED1

3-0309-000

chr7:
120928931-120928931

G

A

intronic

De novo

-

-

Trost2022 G

CPED1

AU2109302

chr7:
120668345-120668345

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPED1

MSSNG00358-004

chr7:
120930332-120930332

G

C

intronic

De novo

-

-

Trost2022 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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