Variant Results

or

or

Results for "CEP250"

Variant Events: 20

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

CEP250

SP0011057

chr20:
34055132-34055132

T

C

exonic

De novo

synonymous SNV

NM_007186

c.T603C

p.D201D

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CEP250

08C77878

chr20:
34095615-34095615

A

C

exonic

De novo

nonsynonymous SNV

NM_007186

c.A6685C

p.S2229R

10.56

-

Fu2022 E

CEP250

72-1921

chr20:
34065858-34065858

G

A

exonic

Inherited

nonsynonymous SNV

NM_007186

c.G2026A

p.A676T

13.11

-

Patowary2019 E

CEP250

11905.p1

chr20:
34053866-34053866

G

T

exonic

De novo

nonsynonymous SNV

NM_007186

c.G329T

p.C110F

16.79

-

Satterstrom2020 E

CEP250

AU043804

chr20:
34049906-34049906

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP250

SJD_55.3

chr20:
34058556-34058556

C

G

intronic

De novo

-

-

Trost2022 G

CEP250

SSC03295

chr20:
34053866-34053866

G

T

exonic

De novo

nonsynonymous SNV

NM_007186

c.G329T

p.C110F

16.79

-

Trost2022 G

CEP250

1-0630-003

chr20:
34051971-34051971

G

A

intronic

De novo

-

-

Trost2022 G

CEP250

2-1120-003

chr20:
34071141-34071141

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP250

2-1093-009

chr20:
34068931-34068931

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CEP250

Cukier2014:37425

chr20:
34064340-34064340

C

T

exonic

Unknown

nonsynonymous SNV

NM_007186

c.C1783T

p.R595W

23.1

Cukier2014 E

CEP250

mAGRE6176

chr20:
34091095-34091100

AGTCTC

A

exonic

Maternal

frameshift deletion

NM_007186

c.4899_4903del

p.K1633fs

-

-

Cirnigliaro2023 G

CEP250

AU3840302

chr20:
34091095-34091100

AGTCTC

A

exonic

Maternal

frameshift deletion

NM_007186

c.4899_4903del

p.K1633fs

-

-

Cirnigliaro2023 G

CEP250

AU2293301

chr20:
34090692-34090692

C

T

exonic

Maternal

stopgain

NM_007186

c.C4495T

p.R1499X

47.0

Cirnigliaro2023 G

CEP250

MSSNG00376-003

chr20:
34061705-34061705

C

A

exonic

De novo

nonsynonymous SNV

NM_007186

c.C1399A

p.L467M

16.32

-

Trost2022 G
Zhou2022 GE

CEP250

mAGRE4135

chr20:
34054790-34054790

G

A

splicing

Maternal

splicing

21.4

Cirnigliaro2023 G

CEP250

AU031003

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_007186
NM_007186

c.3142_3144del
c.3140_3142del

p.1048_1048del
p.1047_1048del

-

-

Yuen2017 G
Zhou2022 GE

CEP250

9-0011-003

chr20:
34107828-34107831

TAAG

T

intergenic

De novo

-

-

Trost2022 G

CEP250

MSSNG00390-003

chr20:
34090425-34090425

G

A

exonic

De novo

nonsynonymous SNV

NM_007186

c.G4228A

p.E1410K

14.44

-

Trost2022 G
Zhou2022 GE

CEP250

7-0456-003

chr20:
34064803-34064803

A

G

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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