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Results for "MEF2A"

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
MEF2A     AU043804chr15:
100253267-100253267
GAUTR3De novo--Yuen2017 G
MEF2A     1-0571-003chr15:
100110258-100110259
GAGintronicDe novo--Yuen2017 G
MEF2A     AU2793302chr15:
100237405-100237405
CTintronicDe novo--Yuen2017 G
MEF2A     ASC_CA_03_Achr15:
100256701-100256703
ACTAdownstreamDe novo--Satterstrom2020 E
MEF2A     1-0918-003chr15:
100185410-100185410
TAintronicDe novo--Yuen2017 G
MEF2A     74-0355chr15:
100197932-100197932
ATintronicDe novo--Michaelson2012 G
MEF2A     2-1359-003chr15:
100224385-100224387
CATCintronicDe novo--Yuen2017 G
MEF2A     AU3865301chr15:
100119789-100119789
CTintronicDe novo--Yuen2017 G
MEF2A     AU3806304chr15:
100181667-100181667
AGintronicDe 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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