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Results for "CCDC181"

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
CCDC181     2-1407-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
CCDC181     SSC02972chr1:
169390748-169390748
GAexonicDe novosynonymous SNVNM_001300969
NM_021179
NM_001300968
c.C921T
c.C921T
c.C921T
p.N307N
p.N307N
p.N307N
--Lim2017 E
CCDC181     1-0387-003chr1:
169379332-169379332
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CCDC181     EGAN00001101337chr1:
169366462-169366462
GCintronicDe novo--Satterstrom2020 E
CCDC181     11394.p1chr1:
169390748-169390748
GAexonicDe novosynonymous SNVNM_001300969
NM_021179
NM_001300968
c.C921T
c.C921T
c.C921T
p.N307N
p.N307N
p.N307N
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
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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