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Results for "CCDC60"

Variant Events: 15

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
CCDC60     AU2035302chr12:
119983652-119983652
CGintergenicDe novo--Yuen2017 G
CCDC60     1-0273-004chr12:
119943659-119943659
CCAintronicDe novo--Yuen2017 G
CCDC60     5-0003-003chr12:
119932636-119932636
TCintronicDe novo--Yuen2017 G
CCDC60     2-1350-004chr12:
120000464-120000464
GAintergenicDe novo--Yuen2017 G
CCDC60     2-1487-003chr12:
119818912-119818912
CGintronicDe novo--Yuen2017 G
CCDC60     AU4013301chr12:
119937908-119937908
AGexonicDe novononsynonymous SNVNM_178499c.A583Gp.I195V0.3188.245E-6Yuen2017 G
CCDC60     1-0278-003chr12:
119829969-119829969
AGintronicDe novo--Yuen2016 G
CCDC60     1-0835-003chr12:
119896258-119896258
ACintronicDe novo--Yuen2017 G
CCDC60     2-1350-003chr12:
120000464-120000464
GAintergenicDe novo--Yuen2017 G
CCDC60     2-1454-003chr12:
119940535-119940535
TCintronicDe novo--Yuen2017 G
CCDC60     AU066403chr12:
119852988-119852988
GAintronicDe novo--Yuen2017 G
CCDC60     PN400564chr12:
119942952-119942952
CTexonicDe novononsynonymous SNVNM_178499c.C727Tp.R243W13.188.285E-6Leblond2019 E
CCDC60     AU2035301chr12:
119983652-119983652
CGintergenicDe novo--Yuen2017 G
CCDC60     iHART3018chr12:
119966552-119966553
GTGsplicingPaternalsplicing--Ruzzo2019 G
CCDC60     iHART3017chr12:
119966552-119966553
GTGsplicingPaternalsplicing--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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