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Results for "CEP78"

Variant Events: 5

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
CEP78     AU4463303chr9:
80886202-80886202
TCintergenicDe novo--Yuen2017 G
CEP78     74-0752chr9:
80877854-80877854
ACexonicInheritednonsynonymous SNVNM_001098802
NM_032171
c.A1415C
c.A1415C
p.K472T
p.K472T
18.014.502E-5Patowary2019 E
CEP78     1-0007-003chr9:
80875865-80875884
TTTTGTTTGTTTGTTTGTTTTTTTGTTTGTTTGTTTintronicDe novo--Yuen2017 G
CEP78     AU4314302chr9:
80894731-80894731
CTintergenicDe novo--Yuen2017 G
CEP78     AU4069302chr9:
80889695-80889695
AGintergenicDe 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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