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Results for "CCDC74A"

Variant Events: 7

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
CCDC74A     AU075703chr2:
132339226-132339226
AGintergenicDe novo--Yuen2017 G
CCDC74A     2-0264-004 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CCDC74A     Cukier2014:17351chr2:
132287879-132287879
GAintronicUnknown11.827.097E-5Cukier2014 E
CCDC74A     Cukier2014:37037chr2:
132290912-132290912
GAexonicUnknownnonsynonymous SNVNM_001258304
NM_001258306
NM_138770
c.G1069A
c.G880A
c.G1078A
p.E357K
p.E294K
p.E360K
15.00.0124Cukier2014 E
CCDC74A     AU3858302chr2:
132330434-132330434
CTintergenicDe novo--Yuen2017 G
CCDC74A     AU3951301chr2:
132301353-132301353
GAintergenicDe novo--Yuen2017 G
CCDC74A     2-1128-003chr2:
132338395-132338395
CTintergenicDe 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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