Variant Results

or

or

Results for "CEP192"

Variant Events: 18

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

CEP192

14174.p1

chr18:
13049312-13049312

C

A

exonic

De novo

nonsynonymous SNV

NM_032142

c.C2522A

p.T841K

3.402

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CEP192

SP0035070

chr18:
13015323-13015323

A

T

intronic

De novo

-

-

Fu2022 E

CEP192

1-0119-004

chr18:
13092263-13092263

C

T

intronic

De novo

-

-

Yuen2017 G

CEP192

3-0410-000

chr18:
13019104-13019104

A

G

exonic

De novo

nonsynonymous SNV

NM_032142

c.A949G

p.S317G

0.053

-

Tammimies2015 E

CEP192

7-0166-003

chr18:
13192057-13192057

G

C

intergenic

De novo

-

-

Yuen2017 G

CEP192

AU4476302

chr18:
13068562-13068564

TGG

TG

intronic

De novo

-

-

Yuen2017 G

CEP192

1-0233-004

chr18:
13204963-13204963

T

C

intergenic

De novo

-

-

Yuen2017 G

CEP192

AU066403

chr18:
13045644-13045644

A

G

intronic

De novo

-

-

Yuen2017 G

CEP192

G01-GEA-130-HI

chr18:
13095502-13095502

C

T

exonic

De novo

synonymous SNV

NM_032142

c.C6255T

p.S2085S

-

Fu2022 E
Satterstrom2020 E

CEP192

1-0998-003

chr18:
13028596-13028596

G

A

intronic

De novo

-

-

Yuen2017 G

CEP192

2-1452-003

chr18:
13167999-13167999

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CEP192

SP0049196

chr18:
13038416-13038416

G

A

exonic

De novo

synonymous SNV

NM_032142

c.G1647A

p.T549T

-

-

Fu2022 E

CEP192

1-0208-003

chr18:
13062380-13062380

G

C

intronic

De novo

-

-

Yuen2017 G

CEP192

iHART2944

chr18:
13056554-13056554

G

A

exonic

Paternal

stopgain

NM_032142

c.G3965A

p.W1322X

29.2

-

Ruzzo2019 G

CEP192

SP0018463

chr18:
13048937-13048937

G

A

exonic

De novo

nonsynonymous SNV

NM_032142

c.G2147A

p.S716N

17.82

-

Fu2022 E

CEP192

1-0508-003

chr18:
13025034-13025034

G

T

intronic

De novo

-

-

Yuen2017 G

CEP192

1-0558-003

chr18:
13203571-13203586

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intergenic

De novo

-

-

Yuen2017 G

CEP192

SSC10957

chr18:
13049312-13049312

C

A

exonic

De novo

nonsynonymous SNV

NM_032142

c.C2522A

p.T841K

3.402

-

Fu2022 E
Lim2017 E

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
	More