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Results for "MAGI1"

Variant Events: 71

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
MAGI1     1-0551-004chr3:
65371961-65371961
ACintronicDe novo--Yuen2017 G
MAGI1     2-1112-003chr3:
65449869-65449869
ATintronicDe novo--Yuen2016 G
Yuen2017 G
MAGI1     AU2156303chr3:
65538982-65538982
TCintronicDe novo--Yuen2017 G
MAGI1     2-0088-003chr3:
65916795-65916795
CAintronicDe novo--Yuen2017 G
MAGI1     AU3713302chr3:
66010066-66010066
GAintronicDe novo--Yuen2017 G
MAGI1     1-0481-003chr3:
66093171-66093171
CGintergenicDe novo--Yuen2017 G
MAGI1     1566001chr3:
65367509-65367509
ACintronicDe novo--Satterstrom2020 E
MAGI1     7-0059-003chr3:
66030591-66030591
CTintergenicDe novo--Yuen2017 G
MAGI1     1-0467-003chr3:
66090846-66090846
TTCintergenicDe novo--Yuen2017 G
MAGI1     1-0995-003chr3:
65203348-65203367
TTTATTATTATTATTATTATTTTATTATTATTATTATintergenicDe novo--Yuen2017 G
MAGI1     AU2863302chr3:
65049956-65049956
GCintergenicDe novo--Yuen2017 G
MAGI1     1-0452-003chr3:
65838250-65838250
CTintronicDe novo--Yuen2017 G
MAGI1     7-0095-003chr3:
65933656-65933656
AGintronicDe novo--Yuen2017 G
MAGI1     1-0173-004chr3:
66090846-66090846
TTCintergenicDe novo--Yuen2017 G
MAGI1     7-0095-003chr3:
65933908-65933908
TCintronicDe novo--Yuen2017 G
MAGI1     AU054304chr3:
65135128-65135128
GAintergenicDe novo--Yuen2017 G
MAGI1     7-0058-003chr3:
65273398-65273398
AGintergenicDe novo--Yuen2017 G
MAGI1     2-1736-003chr3:
65629939-65629939
AGintronicDe novo--Yuen2017 G
MAGI1     1-0381-003chr3:
65815885-65815885
CTintronicDe novo--Yuen2017 G
MAGI1     A7chr3:
65177831-65177831
GAintergenicDe novo--Wu2018 G
MAGI1     1-0382-003chr3:
65457195-65457195
TGintronicDe novo--Yuen2017 G
MAGI1     1-0382-003chr3:
65456678-65456678
AGintronicDe novo--Yuen2017 G
MAGI1     1-0546-003chr3:
65412918-65412918
TCintronicDe novo--Yuen2017 G
MAGI1     AU017304chr3:
65312674-65312678
CTCTTCTintergenicDe novo--Yuen2017 G
MAGI1     AU2410301chr3:
65217727-65217727
CTintergenicDe novo--Yuen2017 G
MAGI1     1-0010-003chr3:
65933908-65933908
TCintronicDe novo--Yuen2017 G
MAGI1     1-0609-003chr3:
66002842-66002842
AGintronicDe novo--Yuen2017 G
MAGI1     1-0665-003chr3:
65791422-65791422
CGintronicDe novo--Yuen2017 G
MAGI1     2-0289-004chr3:
65200182-65200182
TGintergenicDe novo--Yuen2017 G
MAGI1     2-1620-003chr3:
65091529-65091529
CTintergenicDe novo--Yuen2017 G
MAGI1     7-0175-003chr3:
65004784-65004784
TCintergenicDe novo--Yuen2017 G
MAGI1     2-1629-003chr3:
65458907-65458907
ACintronicDe novo--Yuen2017 G
MAGI1     AU2165301chr3:
65436008-65436008
GTintronicDe novo--Yuen2017 G
MAGI1     1-0197-004chr3:
65206437-65206437
TGintergenicDe novo--Yuen2017 G
MAGI1     2-0007-004chr3:
65855846-65855846
AGintronicDe novo--Yuen2017 G
MAGI1     AU3716302chr3:
65694102-65694102
GAintronicDe novo--Yuen2017 G
MAGI1     AU072505chr3:
65715952-65715952
CTintronicDe novo--Yuen2017 G
MAGI1     AU4231301chr3:
65982594-65982594
TCintronicDe novo--Yuen2017 G
MAGI1     AU072505chr3:
65744236-65744236
GCintronicDe novo--Yuen2017 G
MAGI1     1-0197-004chr3:
66091395-66091395
AGintergenicDe novo--Yuen2017 G
MAGI1     AU072505chr3:
65751655-65751655
GAintronicDe novo--Yuen2017 G
MAGI1     AU1542301chr3:
65163060-65163060
GAintergenicDe novo--Yuen2017 G
MAGI1     7-0188-003chr3:
65968780-65968780
TCintronicDe novo--Yuen2017 G
MAGI1     A19chr3:
65375019-65375019
TGintronicDe novo--Wu2018 G
MAGI1     AU2427301chr3:
65034184-65034184
CAintergenicDe novo--Yuen2017 G
MAGI1     258-07-108397chr3:
65456074-65456074
CTexonicDe novosynonymous SNVNM_001033057
NM_004742
NM_015520
c.G843A
c.G843A
c.G843A
p.T281T
p.T281T
p.T281T
10.351.649E-5Satterstrom2020 E
MAGI1     1-0401-003chr3:
65001577-65001577
GAintergenicDe novo--Yuen2017 G
MAGI1     1-0559-005chr3:
66090874-66090874
ACintergenicDe novo--Yuen2017 G
MAGI1     2-0126-004chr3:
65652162-65652163
GTGintronicDe novo--Yuen2017 G
MAGI1     2-1317-003chr3:
65770130-65770130
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MAGI1     AU4485302chr3:
65638480-65638480
CTintronicDe novo--Yuen2017 G
MAGI1     AU3636302chr3:
65216792-65216792
AGintergenicDe novo--Yuen2017 G
MAGI1     1-0045-004chr3:
65547259-65547260
CTCintronicDe novo--Yuen2017 G
MAGI1     AU021204chr3:
66083667-66083667
TCintergenicDe novo--Yuen2017 G
MAGI1     1-0120-003chr3:
65195582-65195582
GCintergenicDe novo--Yuen2017 G
MAGI1     AU3997302chr3:
65221979-65221979
ATintergenicDe novo--Yuen2017 G
MAGI1     1-0218-004chr3:
66091395-66091395
AGintergenicDe novo--Yuen2017 G
MAGI1     1-0512-003chr3:
65054854-65054855
TGTintergenicDe novo--Yuen2017 G
MAGI1     A8chr3:
65132442-65132442
GAintergenicDe novo--Wu2018 G
MAGI1     2-1411-003chr3:
66028320-66028320
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
MAGI1     iHART2690chr3:
65415702-65415702
GAexonicMaternalstopgainNM_001033057
NM_004742
NM_015520
c.C1660T
c.C1660T
c.C1660T
p.R554X
p.R554X
p.R554X
37.0-Ruzzo2019 G
MAGI1     1-0445-003chr3:
65052686-65052686
GAintergenicDe novo--Yuen2017 G
MAGI1     AU4242302chr3:
65548819-65548819
CGintronicDe novo--Yuen2017 G
MAGI1     iHART2691chr3:
65415702-65415702
GAexonicMaternalstopgainNM_001033057
NM_004742
NM_015520
c.C1660T
c.C1660T
c.C1660T
p.R554X
p.R554X
p.R554X
37.0-Ruzzo2019 G
MAGI1     7-0183-003chr3:
65682135-65682135
GCintronicDe novo--Yuen2017 G
MAGI1     7-0183-003chr3:
65683103-65683103
GCintronicDe novo--Yuen2017 G
MAGI1     A16chr3:
65166244-65166244
TCintergenicDe novo--Wu2018 G
MAGI1     AU3915301chr3:
65700136-65700136
GAintronicDe novo--Yuen2017 G
MAGI1     12498.p1chr3:
65389519-65389519
TCintronicDe novo--Turner2016 G
MAGI1     13649.p1chr3:
65854068-65854068
CTintronicDe novo--Turner2016 G
MAGI1     12795.p1chr3:
65011056-65011056
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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