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Results for "MR1"

Variant Events: 8

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
MR1     AU4235303chr1:
181008012-181008012
TCintronicDe novo--Yuen2017 G
MR1     2-1269-003chr1:
181004365-181004365
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MR1     12685.p1chr1:
181021601-181021601
CTexonicDe novononsynonymous SNVNM_001194999
NM_001531
c.C700T
c.C835T
p.H234Y
p.H279Y
11.78-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
MR1     SSC05067chr1:
181021601-181021601
CTexonicDe novononsynonymous SNVNM_001194999
NM_001531
c.C700T
c.C835T
p.H234Y
p.H279Y
11.78-Lim2017 E
MR1     AU3765302chr1:
181047196-181047196
CGintergenicDe novo--Yuen2017 G
MR1     1-0218-003chr1:
181022542-181022542
ATintronicDe novo--Yuen2017 G
MR1     7-0161-003chr1:
181009208-181009208
GAintronicDe novo--Yuen2017 G
MR1     11341.p1chr1:
181035638-181035638
CAintergenicDe novo--Turner2016 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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