Variant Results

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Results for "CEP41"

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

CEP41

3-0209-000

chr7:
130078580-130078580

A

T

intronic

De novo

-

-

Trost2022 G

CEP41

SP0080477

chr7:
130042570-130042570

C

A

exonic

De novo

nonsynonymous SNV

NM_001257159
NM_001257158
NM_018718

c.G445T
c.G493T
c.G493T

p.D149Y
p.D165Y
p.D165Y

25.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CEP41

13171.p1

chr7:
130082588-130082588

C

T

intergenic

De novo

-

-

Turner2016 G

CEP41

2-0090-003

chr7:
130045343-130045343

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP41

2-0142-004

chr7:
130078041-130078041

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP41

156-3925

chr7:
130039895-130039895

G

C

exonic

Inherited

nonsynonymous SNV

NM_018718

c.C958G

p.P320A

13.03

-

Patowary2019 E

CEP41

SP0006579

chr7:
130040586-130040587

CA

C

exonic

De novo

frameshift deletion

NM_001257159
NM_001257158
NM_018718

c.670delT
c.718delT
c.718delT

p.C224fs
p.C240fs
p.C240fs

-

-

Trost2022 G

CEP41

SP0006579

chr7:
130040589-130040591

ATG

A

exonic

De novo

frameshift deletion

NM_001257159
NM_001257158
NM_018718

c.666_667del
c.714_715del
c.714_715del

p.T222fs
p.T238fs
p.T238fs

-

-

Trost2022 G

CEP41

09C80916

chr7:
130038369-130038369

T

G

UTR3

De novo

-

-

Satterstrom2020 E
Trost2022 G

CEP41

2-1721-003

chr7:
130056653-130056653

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP41

1-0190-003

chr7:
130106848-130106848

G

A

intergenic

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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