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Results for "MIR148A"

Variant Events: 15

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
MIR148A     AU4306302chr7:
26043469-26043469
GAintergenicDe novo--Yuen2017 G
MIR148A     74-0265chr7:
26084104-26084104
CGintergenicInherited--Michaelson2012 G
MIR148A     AU2569301 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
MIR148A     1-0486-003chr7:
26166657-26166657
CTintergenicDe novo--Yuen2017 G
MIR148A     2-1444-003chr7:
26099017-26099017
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
MIR148A     1-0609-003chr7:
26018412-26018412
CAintergenicDe novo--Yuen2017 G
MIR148A     AU3852301chr7:
26072093-26072093
AGintergenicDe novo--Yuen2017 G
MIR148A     1-0173-004chr7:
26105436-26105436
AGintergenicDe novo--Yuen2017 G
MIR148A     14072.p1chr7:
25989500-25989500
CAdownstreamDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MIR148A     2-1283-004chr7:
26013578-26013578
GAintergenicDe novo--Yuen2017 G
MIR148A     2-1426-003chr7:
26075723-26075723
GAintergenicDe novo--Yuen2017 G
MIR148A     2-1283-003chr7:
26013578-26013578
GAintergenicDe novo--Yuen2017 G
MIR148A     AU027506chr7:
26132849-26132853
GCTCTGCTintergenicDe novo--Yuen2017 G
MIR148A     12795.p1chr7:
26031280-26031280
ACintergenicDe novo--Turner2016 G
MIR148A     AU059903chr7:
26058801-26058801
TCintergenicDe 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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