Variant Results

or

Results for "CEP350"

Variant Events: 32

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

CEP350

AU3051302

chr1:
179953715-179953715

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP350

2-1296-003

chr1:
180019481-180019481

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP350

AU4033305

chr1:
180029981-180029981

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP350

SP0016641

chr1:
179983060-179983060

C

T

exonic

De novo

nonsynonymous SNV

NM_014810

c.C1472T

p.S491L

26.1

8.281E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

CEP350

SP0113929

chr1:
180056773-180056773

C

T

exonic

De novo

nonsynonymous SNV

NM_014810

c.C6346T

p.P2116S

22.8

3.734E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

CEP350

AU242A

chr1:
179985050-179985050

A

G

exonic

De novo

nonsynonymous SNV

NM_014810

c.A2119G

p.S707G

27.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CEP350

2-0135-004

chr1:
179985050-179985050

A

G

exonic

De novo

nonsynonymous SNV

NM_014810

c.A2119G

p.S707G

27.3

-

Yuen2017 G
Zhou2022 GE

CEP350

SP0017187

chr1:
179924336-179924336

T

G

intronic

De novo

-

Fu2022 E

CEP350

AU2975302

chr1:
179950237-179950237

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP350

1-0323-003

chr1:
180045416-180045416

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP350

Lim2017:4892

chr1:
179983048-179983048

A

C

exonic

De novo

nonsynonymous SNV

NM_014810

c.A1460C

p.N487T

8.7

-

Lim2017 E

CEP350

Wang2023:638

chr1:
180064727-180064727

C

T

exonic

De novo

nonsynonymous SNV

NM_014810

c.C8581T

p.R2861W

25.6

-

Wang2023 E

CEP350

130091

chr1:
180049759-180049759

T

C

exonic

De novo

synonymous SNV

NM_014810

c.T6087C

p.Y2029Y

5.021

1.647E-5

Fu2022 E

CEP350

4892

chr1:
179983048-179983048

A

C

exonic

De novo

nonsynonymous SNV

NM_014810

c.A1460C

p.N487T

8.7

-

Fu2022 E
Trost2022 G

CEP350

MSSNG00077-005

chr1:
179931576-179931576

G

A

intronic

De novo

-

Trost2022 G

CEP350

7-0249-004

chr1:
180093095-180093114

GTTCATTCATTCATTCATTC

GTTCATTCATTCATTC

intergenic

De novo

-

Yuen2017 G

CEP350

DEASD_2055_001

chr1:
180000456-180000456

G

T

exonic

De novo

nonsynonymous SNV

NM_014810

c.G3552T

p.W1184C

17.53

-

Fu2022 E

CEP350

1-0025-004

chr1:
180039610-180039614

GAGAA

G

intronic

De novo

-

Trost2022 G

CEP350

SP0059572

chr1:
180010382-180010382

A

C

exonic

De novo

nonsynonymous SNV

NM_014810

c.A4220C

p.Q1407P

18.63

-

Trost2022 G

CEP350

SP0171527

chr1:
180065000-180065000

A

G

exonic

De novo

nonsynonymous SNV

NM_014810

c.A8854G

p.K2952E

11.5

1.691E-5

Trost2022 G

CEP350

10-1149-003

chr1:
180039812-180039812

G

A

intronic

De novo

-

Trost2022 G

CEP350

AU2117302

chr1:
180031520-180031520

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP350

3-0111-000

chr1:
180083605-180083605

T

G

UTR3

De novo

-

Yuen2016 G

CEP350

4-0084-004

chr1:
180007257-180007257

A

G

intronic

De novo

-

Trost2022 G

CEP350

3-0111-000

chr1:
180083588-180083588

A

G

UTR3

De novo

-

Yuen2016 G

CEP350

14-613

chr1:
179944923-179944923

G

C

intronic

De novo

-

Trost2022 G

CEP350

5-5025-004

chr1:
180007975-180007975

C

CT

intronic

De novo

-

Trost2022 G

CEP350

AU2287301

chr1:
180007384-180007384

G

A

intronic

De novo

-

Trost2022 G

CEP350

1-0912-003

chr1:
180027733-180027733

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP350

2-1504-003

chr1:
180073718-180073718

T

A

intronic

De novo

-

Trost2022 G

CEP350

11055.p1

chr1:
179983048-179983048

A

C

exonic

De novo

nonsynonymous SNV

NM_014810

c.A1460C

p.N487T

8.7

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CEP350

13111.p1

chr1:
180063065-180063065

A

G

exonic

nonsynonymous SNV

NM_014810

c.A7825G

p.S2609G

4.025

-

Zhou2022 GE

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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