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Results for "CCDC66"

Variant Events: 17

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
CCDC66     iHART1973chr3:
56653386-56653390
TGAGATexonicPaternalframeshift deletionNM_001012506
NM_001141947
c.2365_2368del
c.2467_2470del
p.E789fs
p.E823fs
-1.654E-5Ruzzo2019 G
CCDC66     iHART1883chr3:
56650080-56650081
AGAexonicMaternalframeshift deletionNM_001012506
NM_001141947
c.1741delG
c.1843delG
p.D581fs
p.D615fs
-1.65E-5Ruzzo2019 G
CCDC66     iHART2305chr3:
56653421-56653423
CAGCexonicMaternalframeshift deletionNM_001012506
NM_001141947
c.2400_2401del
c.2502_2503del
p.T800fs
p.T834fs
-6.0E-4Ruzzo2019 G
CCDC66     5-0083-003chr3:
56599000-56599000
CGintronicDe novo--Yuen2017 G
CCDC66     AU2156303chr3:
56625183-56625183
ATintronicDe novo--Yuen2017 G
CCDC66     iHART2631chr3:
56591282-56591282
GGTAAGCAGGGTsplicingPaternalsplicing-1.0E-4Ruzzo2019 G
CCDC66     2-0122-004chr3:
56653575-56653575
TTCTAAintronicDe novo-0.0081Yuen2017 G
CCDC66     Li2017:23136chr3:
56649169-56649174
TCAAGATexonicUnknownframeshift deletionNM_001012506
NM_001141947
c.1479_1483del
c.1581_1585del
p.L493fs
p.L527fs
-1.0E-4Li2017 T
CCDC66     1-0404-003chr3:
56595978-56595978
CTintronicDe novo--Yuen2017 G
CCDC66     AU007503chr3:
56601358-56601358
CGintronicDe novo--Yuen2017 G
CCDC66     AU3861301chr3:
56599046-56599046
GAintronicDe novo--Yuen2017 G
CCDC66     A2chr3:
56653453-56653453
CCGTAAexonicDe novoframeshift insertionNM_001012506
NM_001141947
c.2431_2432insGTAA
c.2533_2534insGTAA
p.H811fs
p.H845fs
--Wu2018 G
CCDC66     1-0321-004chr3:
56604402-56604402
AGintronicDe novo--Yuen2017 G
CCDC66     13060.p1chr3:
56627767-56627771
AAAGTAexonicDe novoframeshift deletionNM_001012506
NM_001141947
c.1216_1217del
c.1318_1319del
p.N406fs
p.N440fs
-8.273E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CCDC66     Li2017:17602chr3:
56655621-56655623
AAGAexonicUnknownframeshift deletionNM_001012506
NM_001141947
c.2721_2722del
c.2823_2824del
p.E907fs
p.E941fs
--Li2017 T
CCDC66     2-1281-003chr3:
56595199-56595199
TCintronicDe novo--Yuen2017 G
CCDC66     1-0214-003chr3:
56613983-56613983
CGintronicDe novo--Yuen2017 G
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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