Variant Results

or

Results for "CCDC90B"

Variant Events: 25

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

CCDC90B

7-0242-003

chr11:
83060552-83060552

C

T

intergenic

De novo

-

Yuen2017 G

CCDC90B

2-1114-003

chr11:
83145608-83145608

G

A

intergenic

De novo

-

Yuen2017 G

CCDC90B

5-0014-003

chr11:
83038798-83038798

C

T

intergenic

De novo

-

Yuen2017 G

CCDC90B

PN400347

chr11:
82991264-82991264

C

T

exonic

Unknown

nonsynonymous SNV

NM_001286116
NM_021825

c.G113A
c.G140A

p.R38Q
p.R47Q

33.0

0.0058

Leblond2019 E

CCDC90B

PN400117

chr11:
82991264-82991264

C

T

exonic

Unknown, Inherited

nonsynonymous SNV

NM_001286116
NM_021825

c.G113A
c.G140A

p.R38Q
p.R47Q

33.0

0.0058

Leblond2019 E
Leblond2019 E

CCDC90B

AU3847302

chr11:
82981042-82981042

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC90B

SP0071568

chr11:
82997009-82997009

T

A

exonic

De novo

nonsynonymous SNV

NM_021825

c.A7T

p.S3C

12.39

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CCDC90B

1-0526-003

chr11:
83031566-83031566

A

T

intergenic

De novo

-

Yuen2017 G

CCDC90B

SP0086064

chr11:
82996884-82996884

T

G

UTR5

De novo

-

Fu2022 E
Trost2022 G

CCDC90B

PN400127

chr11:
82991264-82991264

C

T

exonic

Unknown

nonsynonymous SNV

NM_001286116
NM_021825

c.G113A
c.G140A

p.R38Q
p.R47Q

33.0

0.0058

Leblond2019 E

CCDC90B

17169

chr11:
82989819-82989819

T

C

exonic

De novo

nonsynonymous SNV

NM_001286116
NM_021825

c.A247G
c.A274G

p.N83D
p.N92D

18.82

-

Neale2012 E

CCDC90B

PN400209

chr11:
82991264-82991264

C

T

exonic

Unknown

nonsynonymous SNV

NM_001286116
NM_021825

c.G113A
c.G140A

p.R38Q
p.R47Q

33.0

0.0058

Leblond2019 E

CCDC90B

AU024607

chr11:
83002110-83002110

C

T

intergenic

De novo

-

Yuen2017 G

CCDC90B

AU3649305

chr11:
83034666-83034666

A

G

intergenic

De novo

-

Yuen2017 G

CCDC90B

PN400241

chr11:
82991264-82991264

C

T

exonic

Unknown

nonsynonymous SNV

NM_001286116
NM_021825

c.G113A
c.G140A

p.R38Q
p.R47Q

33.0

0.0058

Leblond2019 E

CCDC90B

AU01404

chr11:
82989819-82989819

T

C

exonic

De novo

nonsynonymous SNV

NM_001286116
NM_021825

c.A247G
c.A274G

p.N83D
p.N92D

18.82

-

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

CCDC90B

1-0246-005

chr11:
83129174-83129174

C

T

intergenic

De novo

-

Yuen2017 G

CCDC90B

1-0455-003

chr11:
82975165-82975165

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC90B

2-1561-003

chr11:
82973798-82973798

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC90B

2-0300-004

chr11:
83069608-83069608

C

T

intergenic

De novo

-

Yuen2017 G

CCDC90B

1-0119-004

chr11:
82969733-82969733

A

G

downstream

De novo

-

Trost2022 G
Yuen2017 G

CCDC90B

2-1364-003

chr11:
82970602-82970602

T

C

UTR3

De novo

-

Yuen2017 G

CCDC90B

9190786

chr11:
82985150-82985150

G

T

intronic

De novo

-

Fu2022 E

CCDC90B

3-0416-000

chr11:
82987041-82987041

G

A

intronic

De novo

-

Trost2022 G

CCDC90B

TRE_188

chr11:
82997168-82997168

C

T

exonic

De novo

synonymous SNV

NM_001286116

c.G48A

p.G16G

-

Fu2022 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
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