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Results for "EVA1A"

Variant Events: 9

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
EVA1A     AU045514chr2:
75812210-75812210
GAintergenicDe novo--Yuen2017 G
EVA1A     1-0006-003chr2:
75840125-75840125
CTintergenicDe novo--Yuen2017 G
EVA1A     AU4067301chr2:
75725038-75725038
AGintronicDe novo--Yuen2017 G
EVA1A     AU3076302chr2:
75828652-75828652
CTintergenicDe novo--Yuen2017 G
EVA1A     1-0336-003chr2:
75726460-75726460
GAintronicDe novo--Yuen2017 G
EVA1A     74-0355chr2:
75732066-75732066
GAintronicDe novo--Michaelson2012 G
EVA1A     1-0150-004chr2:
75854340-75854340
CTintergenicDe novo--Yuen2017 G
EVA1A     AU3052301chr2:
75830336-75830336
CAintergenicDe novo--Yuen2017 G
EVA1A     2-0068-003chr2:
75747266-75747266
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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