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Results for "CLYBL"

Variant Events: 15

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
CLYBL     Cukier2014:17122chr13:
100425097-100425097
GTexonicUnknownnonsynonymous SNVNM_206808c.G82Tp.D28Y12.730.0217Cukier2014 E
CLYBL     AU015903chr13:
100274775-100274775
CTintronicDe novo--Yuen2017 G
CLYBL     23.s1chr13:
100425084-100425084
GAexonicDe novosynonymous SNVNM_206808c.G69Ap.A23A-1.654E-5An2014 E
CLYBL     1-0359-003chr13:
100287408-100287408
GAintronicDe novo--Yuen2017 G
CLYBL     AU073005chr13:
100361526-100361526
CTintronicDe novo--Yuen2017 G
CLYBL     2-1228-003chr13:
100275309-100275309
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CLYBL     iHART1894chr13:
100518538-100518538
CTexonicMaternalstopgainNM_206808c.C679Tp.Q227X38.0-Ruzzo2019 G
CLYBL     iHART1891chr13:
100518538-100518538
CTexonicMaternalstopgainNM_206808c.C679Tp.Q227X38.0-Ruzzo2019 G
CLYBL     AU3951302chr13:
100371782-100371782
CTintronicDe novo--Yuen2017 G
CLYBL     A5chr13:
100330101-100330101
TGintronicDe novo--Wu2018 G
CLYBL     2-1430-003chr13:
100288006-100288006
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CLYBL     08C78818chr13:
100258954-100258954
CTexonicDe novononsynonymous SNVNM_206808c.C5Tp.A2V13.68-Satterstrom2020 E
CLYBL     AU4356302chr13:
100299279-100299279
CTintronicDe novo--Yuen2017 G
CLYBL     AU2495301chr13:
100352342-100352342
AGintronicDe novo--Yuen2017 G
CLYBL     AU2140306chr13:
100269240-100269240
AGintronicDe 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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