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Results for "CCDC90B"

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
CCDC90B     AU024607chr11:
83002110-83002110
CTintergenicDe novo--Yuen2017 G
CCDC90B     7-0242-003chr11:
83060552-83060552
CTintergenicDe novo--Yuen2017 G
CCDC90B     AU3649305chr11:
83034666-83034666
AGintergenicDe novo--Yuen2017 G
CCDC90B     2-1114-003chr11:
83145608-83145608
GAintergenicDe novo--Yuen2017 G
CCDC90B     5-0014-003chr11:
83038798-83038798
CTintergenicDe novo--Yuen2017 G
CCDC90B     PN400347chr11:
82991264-82991264
CTexonicUnknownnonsynonymous SNVNM_001286116
NM_021825
c.G113A
c.G140A
p.R38Q
p.R47Q
33.00.0058Leblond2019 E
CCDC90B     PN400117chr11:
82991264-82991264
CTexonicInherited, Unknownnonsynonymous SNVNM_001286116
NM_021825
c.G113A
c.G140A
p.R38Q
p.R47Q
33.00.0058Leblond2019 E
Leblond2019 E
CCDC90B     AU3847302chr11:
82981042-82981042
TCintronicDe novo--Yuen2017 G
CCDC90B     PN400241chr11:
82991264-82991264
CTexonicUnknownnonsynonymous SNVNM_001286116
NM_021825
c.G113A
c.G140A
p.R38Q
p.R47Q
33.00.0058Leblond2019 E
CCDC90B     AU01404chr11:
82989819-82989819
TCexonicDe novononsynonymous SNVNM_001286116
NM_021825
c.A247G
c.A274G
p.N83D
p.N92D
18.82-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CCDC90B     1-0526-003chr11:
83031566-83031566
ATintergenicDe novo--Yuen2017 G
CCDC90B     1-0246-005chr11:
83129174-83129174
CTintergenicDe novo--Yuen2017 G
CCDC90B     PN400127chr11:
82991264-82991264
CTexonicUnknownnonsynonymous SNVNM_001286116
NM_021825
c.G113A
c.G140A
p.R38Q
p.R47Q
33.00.0058Leblond2019 E
CCDC90B     1-0455-003chr11:
82975165-82975165
CTintronicDe novo--Yuen2017 G
CCDC90B     2-1561-003chr11:
82973798-82973798
TCintronicDe novo--Yuen2017 G
CCDC90B     2-0300-004chr11:
83069608-83069608
CTintergenicDe novo--Yuen2017 G
CCDC90B     17169chr11:
82989819-82989819
TCexonicDe novononsynonymous SNVNM_001286116
NM_021825
c.A247G
c.A274G
p.N83D
p.N92D
18.82-Neale2012 E
CCDC90B     1-0119-004chr11:
82969733-82969733
AGdownstreamDe novo--Yuen2017 G
CCDC90B     2-1364-003chr11:
82970602-82970602
TCUTR3De novo--Yuen2017 G
CCDC90B     PN400209chr11:
82991264-82991264
CTexonicUnknownnonsynonymous SNVNM_001286116
NM_021825
c.G113A
c.G140A
p.R38Q
p.R47Q
33.00.0058Leblond2019 E
Source Variant Information

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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 notesView
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