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Results for "CLVS2"

Variant Events: 16

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
CLVS2     7-0141-003chr6:
123317493-123317493
GAUTR5De novo--Yuen2017 G
CLVS2     13069.p1chr6:
123461999-123461999
CAintergenicDe novo--Turner2016 G
CLVS2     1-0541-003chr6:
123399806-123399806
CAintergenicDe novo--Yuen2017 G
CLVS2     AU2410301chr6:
123524396-123524396
CTintergenicDe novo--Yuen2017 G
CLVS2     5-0140-003chr6:
123408693-123408693
CTintergenicDe novo--Yuen2017 G
CLVS2     2-1241-003chr6:
123493152-123493152
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CLVS2     5-0061-003chr6:
123390687-123390687
CTUTR3De novo--Yuen2017 G
CLVS2     AU079605chr6:
123497317-123497317
GAintergenicDe novo--Yuen2017 G
CLVS2     1-0986-003chr6:
123488205-123488205
TCintergenicDe novo--Yuen2017 G
CLVS2     1-0488-003chr6:
123485509-123485509
TGintergenicDe novo--Yuen2017 G
CLVS2     2-1693-003chr6:
123503550-123503550
GAintergenicDe novo--Yuen2017 G
CLVS2     7-0197-003chr6:
123454618-123454618
GAintergenicDe novo--Yuen2017 G
CLVS2     2-1174-005Bchr6:
123480733-123480733
CTintergenicDe novo--Yuen2017 G
CLVS2     2-1186-003chr6:
123531916-123531916
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
CLVS2     AU075207chr6:
123407002-123407002
GAintergenicDe novo--Yuen2017 G
CLVS2     AU3861303chr6:
123503960-123503960
GAintergenicDe 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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