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Results for "KY"

Variant Events: 11

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
KY     2-1359-003chr3:
134382359-134382359
GAintergenicDe novo--Yuen2017 G
KY     2-0045-003chr3:
134448845-134448845
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
KY     5-0140-003chr3:
134465106-134465106
TCintergenicDe novo--Yuen2017 G
KY     AU4215302chr3:
134322881-134322881
CTexonicDe novononsynonymous SNVNM_178554c.G1526Ap.R509Q24.81.675E-5Yuen2017 G
KY     2-1359-004chr3:
134382359-134382359
GAintergenicDe novo--Yuen2017 G
KY     11572.p1chr3:
134464550-134464550
AGintergenicDe novo--Turner2016 G
KY     11572.p1chr3:
134464567-134464567
GAintergenicDe novo--Turner2016 G
KY     1-0496-003chr3:
134506567-134506567
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
KY     11089.p1chr3:
134356589-134356589
CTintronicDe novo--Turner2016 G
KY     5-0026-003chr3:
134476579-134476579
GAintergenicDe novo--Yuen2017 G
KY     AU3885304chr3:
134326131-134326131
CTintronicDe 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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