or
or
Exact

Results for "CEP290"

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
CEP290     AU031003chr12:
88526411-88526411
GAintronicDe novo--Yuen2017 G
CEP290     PN400246chr12:
88512301-88512301
CTexonicUnknownnonsynonymous SNVNM_025114c.G1670Ap.R557H24.76.0E-4Leblond2019 E
CEP290     1-0585-003chr12:
88470758-88470758
TCintronicDe novo--Yuen2017 G
CEP290     2-0149-005chr12:
88520889-88520889
TTTCintronicDe novo--Yuen2017 G
CEP290     12498.p1chr12:
88491860-88491860
GAintronicDe novo--Turner2016 G
CEP290     5-0137-003chr12:
88445259-88445259
GCintronicDe novo--Yuen2017 G
CEP290     PN400443chr12:
88512301-88512301
CTexonicUnknownnonsynonymous SNVNM_025114c.G1670Ap.R557H24.76.0E-4Leblond2019 E
CEP290     PN400317chr12:
88512301-88512301
CTexonicUnknownnonsynonymous SNVNM_025114c.G1670Ap.R557H24.76.0E-4Leblond2019 E
CEP290     A30chr12:
88468366-88468366
AGintronicDe novo--Wu2018 G
CEP290     Cukier2014:37425chr12:
88472996-88472996
CTexonicUnknownnonsynonymous SNVNM_025114c.G5237Ap.R1746Q16.750.0119Cukier2014 E
CEP290     iHART2036chr12:
88486507-88486507
TTCexonicPaternalframeshift insertionNM_025114c.3411dupGp.I1138fs--Ruzzo2019 G
CEP290     Cukier2014:37117chr12:
88508258-88508258
TCexonicUnknownnonsynonymous SNVNM_025114c.A1991Gp.D664G16.640.0161Cukier2014 E
CEP290     2-1355-004chr12:
88477376-88477376
CTintronicDe novo--Yuen2017 G
CEP290     iHART1064chr12:
88472961-88472961
CCAexonicPaternalframeshift insertionNM_025114c.5271_5272insTp.A1758fs-8.48E-6Ruzzo2019 G
CEP290     iHART1981chr12:
88508953-88508954
ATAexonicPaternalframeshift deletionNM_025114c.1830delAp.E610fs--Ruzzo2019 G
CEP290     iHART1980chr12:
88508953-88508954
ATAexonicPaternalframeshift deletionNM_025114c.1830delAp.E610fs--Ruzzo2019 G
CEP290     AU3912301chr12:
88479174-88479180
CATAAATCATintronicDe novo--Yuen2017 G
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 notesView
More