Variant Results

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or

Results for "CEP72"

Variant Events: 19

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

CEP72

PN400115

chr5:
635530-635530

T

C

exonic

De novo

synonymous SNV

NM_018140

c.T735C

p.C245C

12.03

-

Leblond2019 E

CEP72

7-0379-003

chr5:
624543-624543

G

A

intronic

De novo

-

Trost2022 G

CEP72

mAGRE4431

chr5:
612559-612559

G

A

splicing

Paternal

splicing

10.46

-

Cirnigliaro2023 G

CEP72

1-0405-003

chr5:
645143-645146

CCTT

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP72

AU4347301

chr5:
628496-628496

C

G

intronic

De novo

-

-

Trost2022 G

CEP72

AU2592303

chr5:
639234-639234

G

A

exonic

De novo

nonsynonymous SNV

NM_018140

c.G1237A

p.G413R

4.852

Fu2022 E

CEP72

3-0392-000

chr5:
623235-623237

CAG

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G

CEP72

SP0121825

chr5:
639406-639406

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

CEP72

SP0102139

chr5:
620235-620235

A

G

exonic

De novo

nonsynonymous SNV

NM_018140

c.A262G

p.I88V

3.973

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CEP72

1-0493-003

chr5:
649500-649500

A

C

intronic

De novo

-

-

Trost2022 G

CEP72

1-0675-003

chr5:
646910-646910

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP72

mAGRE5368

chr5:
637730-637730

C

T

exonic

Maternal

stopgain

NM_018140

c.C1003T

p.R335X

18.86

Cirnigliaro2023 G

CEP72

A11056-3

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_018140
NM_018140

c.217_218insG
c.218_219insAT

p.Q73fs
p.Q73fs

-

Li2017 T
Li2017 T

CEP72

7-0454-003

chr5:
628629-628629

C

G

intronic

De novo

-

-

Trost2022 G

CEP72

mAGRE4394

chr5:
634030-634031

AG

A

exonic

Paternal

frameshift deletion

NM_018140

c.660delG

p.K220fs

-

-

Cirnigliaro2023 G

CEP72

5-1001-003

chr5:
628874-628874

C

T

intronic

De novo

-

-

Trost2022 G

CEP72

mAGRE4393

chr5:
634030-634031

AG

A

exonic

Paternal

frameshift deletion

NM_018140

c.660delG

p.K220fs

-

-

Cirnigliaro2023 G

CEP72

Li2017:17558

chr5:
624597-624597

G

A

exonic

Unknown

nonsynonymous SNV

NM_018140

c.G415A

p.V139M

16.52

Li2017 T

CEP72

AU3951302

chr5:
628682-628682

T

G

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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