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Results for "CTSC"

Variant Events: 12

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
CTSC     7-0077-003chr11:
88195652-88195652
AGintergenicDe novo--Yuen2017 G
CTSC     AU000704chr11:
88052709-88052709
AGintronicDe novo--Yuen2017 G
CTSC     AU060803chr11:
88175097-88175097
TCintergenicDe novo--Yuen2017 G
CTSC     AU4239301chr11:
88179225-88179225
CTintergenicDe novo--Yuen2017 G
CTSC     1-0339-004chr11:
88079071-88079071
AGintergenicDe novo--Yuen2017 G
CTSC     12378.p1chr11:
88027200-88027200
CGexonicDe novononsynonymous SNVNM_001814c.G1366Cp.A456P19.498.268E-6Ji2016 E
Krumm2015 E
CTSC     AU039304chr11:
88185598-88185598
GAintergenicDe novo--Yuen2017 G
CTSC     7-0250-003chr11:
88226908-88226908
TCintergenicDe novo--Yuen2017 G
CTSC     1-0494-003chr11:
88191383-88191385
GTAGintergenicDe novo--Yuen2017 G
CTSC     2-1230-003chr11:
88034542-88034542
TCintronicDe novo--Yuen2017 G
CTSC     11547.p1chr11:
88070626-88070626
GAintronicMosaic--Dou2017 E
CTSC     2-1323-003chr11:
88172141-88172141
AGintergenicDe 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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