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Results for "MAPRE1"

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
MAPRE1     2-0242-005chr20:
31557268-31557268
CCAGATTAGCTGGATintergenicDe novo--Yuen2017 G
MAPRE1     AU2108302chr20:
31473374-31473374
TAintergenicDe novo36.0-Yuen2017 G
MAPRE1     1-0402-003chr20:
31548576-31548577
CTCintergenicDe novo--Yuen2017 G
MAPRE1     AU4028302chr20:
31464340-31464340
AGintergenicDe novo--Yuen2017 G
MAPRE1     AU4054301chr20:
31530237-31530237
AGintergenicDe novo--Yuen2017 G
MAPRE1     12716.p1chr20:
31549114-31549114
CTintergenicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
MAPRE1     2-1194-003chr20:
31458660-31458660
TCintergenicDe novo--Yuen2017 G
MAPRE1     14153.p1chr20:
31432510-31432510
GTintronicDe novo--Turner2016 G
MAPRE1     1-0274-004chr20:
31523252-31523252
CTintergenicDe novo--Yuen2017 G
MAPRE1     11093.p1chr20:
31473369-31473369
GAintergenicDe novo--Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
MAPRE1     AU4099301chr20:
31465920-31465923
AAATAintergenicDe novo--Yuen2017 G
MAPRE1     2-0116-005chr20:
31406708-31406708
CTupstreamDe novo--Yuen2017 G
MAPRE1     1-0274-003chr20:
31523252-31523252
CTintergenicDe novo--Yuen2017 G
MAPRE1     AU1795303chr20:
31433532-31433532
TCintronicDe 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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