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Results for "CCDC38"

Variant Events: 8

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
CCDC38     Cukier2014:37994chr12:
96272113-96272113
AGexonicUnknownnonsynonymous SNVNM_182496c.T1154Cp.I385T15.542.0E-4Cukier2014 E
CCDC38     AU3729303chr12:
96276115-96276115
CTintronicDe novo--Yuen2017 G
CCDC38     A5chr12:
96306847-96306847
GAintronicDe novo--Wu2018 G
CCDC38     1-0393-003chr12:
96290474-96290474
CTintronicDe novo--Yuen2017 G
CCDC38     1-0300-004chr12:
96326349-96326350
TATintronicDe novo--Yuen2017 G
CCDC38     AU3984301chr12:
96320971-96320971
CTintronicDe novo--Yuen2017 G
CCDC38     iHART1934chr12:
96273504-96273504
GTexonicDe novononsynonymous SNVNM_182496c.C1060Ap.L354I23.4-Ruzzo2019 G
CCDC38     1-0531-003chr12:
96288056-96288056
GAintronicDe novo--Yuen2016 G
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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