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Results for "MRE11"

Variant Events: 11

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
MRE11     Li2017:20256chr11:
94197278-94197278
CTsplicingUnknownsplicing22.6-Li2017 T
MRE11     2-1323-003chr11:
94169918-94169918
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MRE11     AU4372309chr11:
94192627-94192627
GAexonicDe novostopgainNM_005590
NM_005591
c.C1447T
c.C1447T
p.R483X
p.R483X
39.08.242E-6Yuen2017 G
MRE11     2-1264-003chr11:
94165885-94165885
TCintronicDe novo--Yuen2017 G
MRE11     AU4283301chr11:
94218932-94218932
AGintronicDe novo--Yuen2017 G
MRE11     Li2017:16192chr11:
94192749-94192749
TCsplicingUnknownsplicing16.4-Li2017 T
MRE11     AU079104chr11:
94218872-94218872
AGintronicDe novo--Yuen2017 G
MRE11     AU039304chr11:
94169667-94169667
GAintronicDe novo--Yuen2017 G
MRE11     1-0099-003chr11:
94206084-94206084
AGintronicDe novo--Yuen2017 G
MRE11     1-0294-003chr11:
94183807-94183807
CTintronicDe novo--Yuen2017 G
MRE11     Li2017:15013chr11:
94211910-94211910
AGexonicUnknownnonsynonymous SNVNM_005590
NM_005591
c.T535C
c.T535C
p.Y179H
p.Y179H
19.51-Li2017 T
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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