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Results for "MGA"

Variant Events: 24

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     AU2250301chr15:
41987225-41987225
AGintronicDe novo--Trost2022 G
MGA     1-0524-003chr15:
41998452-41998452
GAintronicDe novo--Trost2022 G
MGA     1024chr15:
41980563-41980563
CTintronicDe novo--Trost2022 G
MGA     2-1091-003chr15:
41987004-41987004
CGintronicDe novo--Trost2022 G
MGA     MSSNG00349-004chr15:
41961527-41961527
TCexonicDe novosynonymous SNVNM_001080541
NM_001164273
c.T435C
c.T435C
p.S145S
p.S145S
-2.0E-4Trost2022 G
MGA     1-0629-003chr15:
41993909-41993909
GCintronicDe novo--Trost2022 G
Yuen2017 G
MGA     7-0357-004chr15:
41978096-41978096
AGintronicDe novo--Trost2022 G
MGA     7-0484-003chr15:
41955227-41955231
ACTATAintronicDe novo--Trost2022 G
MGA     1-0158-012chr15:
42052856-42052856
GGACTTCintronicDe novo--Trost2022 G
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--Trost2022 G
Yuen2017 G
MGA     7-0416-003chr15:
42052464-42052464
GCintronicDe novo--Trost2022 G
MGA     2-1423-003chr15:
42056340-42056340
GAintronicDe novo--Trost2022 G
MGA     AU4423303chr15:
42021865-42021865
CCAintronicDe novo--Trost2022 G
MGA     MSSNG00258-005chr15:
42047606-42047606
ATintronicDe novo--Trost2022 G
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     13171.p1chr15:
42030126-42030126
TCintronicDe novo--Turner2016 G
MGA     2-0022-003chr15:
42004754-42004754
AGintronicDe novo--Trost2022 G
Yuen2017 G
MGA     SP0108393chr15:
42034835-42034835
CGexonicDe novosynonymous SNVNM_001164273c.C4677Gp.P1559P--Fu2022 E
Trost2022 G
Zhou2022 GE
MGA     Wang2023:448chr15:
42042530-42042530
ACexonicDe novononsynonymous SNVNM_001080541
NM_001164273
c.A6098C
c.A6725C
p.D2033A
p.D2242A
11.13-Wang2023 E
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--Trost2022 G
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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