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Results for "MIR548AE1"

Variant Events: 14

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
MIR548AE1     2-1406-003chr2:
185433371-185433371
CTintergenicDe novo--Yuen2017 G
MIR548AE1     2-1376-003chr2:
185385215-185385215
ACintergenicDe novo--Yuen2017 G
MIR548AE1     1-0651-003chr2:
185282668-185282668
TCintergenicDe novo--Yuen2017 G
MIR548AE1     AU038703chr2:
185430769-185430769
TGintergenicDe novo--Yuen2017 G
MIR548AE1     AU050403chr2:
185273414-185273414
GAintergenicDe novo--Yuen2017 G
MIR548AE1     1-0636-003chr2:
185404469-185404469
GTintergenicDe novo--Yuen2017 G
MIR548AE1     AU3846302chr2:
185404406-185404406
AGintergenicDe novo--Yuen2017 G
MIR548AE1     13649.p1chr2:
185458570-185458570
CTintergenicDe novo--Turner2016 G
MIR548AE1     1-0820-003chr2:
185289130-185289130
GAintergenicDe novo--Yuen2017 G
MIR548AE1     63-449chr2:
185261627-185261627
GAintergenicInherited--Michaelson2012 G
MIR548AE1     AU031003chr2:
185457797-185457797
CAintergenicDe novo--Yuen2017 G
MIR548AE1     7-0151-003chr2:
185451441-185451441
GAintergenicDe novo--Yuen2017 G
MIR548AE1     AU2863302chr2:
185250092-185250092
TAintergenicDe novo--Yuen2017 G
MIR548AE1     3-0140-000chr2:
185451244-185451244
GCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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