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Results for "MGA"

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
MGA     13171.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
Turner2016 G
MGA     13171.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
MGA     1-0629-003chr15:
41993909-41993909
GCintronicDe novo--Yuen2017 G
MGA     13171.p1chr15:
42030126-42030126
TCintronicDe novo--Turner2016 G
MGA     2-0022-003chr15:
42004754-42004754
AGintronicDe novo--Yuen2017 G
MGA     1-0158-012chr15:
42052856-42052856
GGACTTCintronicDe novo--Yuen2017 G
MGA     JASD_Fam0249chr15:
42058538-42058538
GAexonicDe novononsynonymous SNVNM_001080541
NM_001164273
c.G7631A
c.G8258A
p.G2544E
p.G2753E
18.0-Takata2018 E
MGA     AU0452303chr15:
42054599-42054599
AGintronicDe novo--Yuen2017 G
MGA     2-0158-003chr15:
42006007-42006007
CTintronicDe novo--Yuen2017 G
MGA     Cukier2014:37232chr15:
42021512-42021512
TCexonicUnknownnonsynonymous SNVNM_001080541
NM_001164273
c.T3808C
c.T3808C
p.C1270R
p.C1270R
15.590.0344Cukier2014 E
MGA     1-0067-005chr15:
41986337-41986337
CTintronicDe 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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