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Results for "CCDC18"

Variant Events: 9

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
CCDC18     10C102957chr1:
93667486-93667486
GAexonicDe novononsynonymous SNVNM_001306076
NM_206886
c.G736A
c.G736A
p.E246K
p.E246K
26.86.683E-5DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
CCDC18     1-0453-003chr1:
93738999-93739001
GAAGAintronicDe novo--Yuen2017 G
CCDC18     236-15-DRchr1:
93719993-93719993
AGintronicDe novo--Satterstrom2020 E
CCDC18     AU4237301chr1:
93748935-93748935
ACintergenicDe novo--Yuen2017 G
CCDC18     3-0140-000chr1:
93677438-93677438
GAintronicDe novo--Yuen2017 G
CCDC18     1-0184-003chr1:
93748124-93748124
ATintergenicDe novo--Yuen2017 G
CCDC18     AU0636303chr1:
93745094-93745094
GAdownstreamDe novo--Yuen2017 G
CCDC18     AU4237302chr1:
93748935-93748935
ACintergenicDe novo--Yuen2017 G
CCDC18     iHART3177chr1:
93701916-93701917
CACexonicPaternalframeshift deletionNM_001306076
NM_206886
c.2570delA
c.2573delA
p.Q857fs
p.Q858fs
--Ruzzo2019 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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