Variant Results

or

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

1-0551-004

chr3:
65371961-65371961

A

C

intronic

De novo

-

Yuen2017 G

MAGI1

2-1112-003

chr3:
65449869-65449869

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAGI1

AU2156303

chr3:
65538982-65538982

T

C

intronic

De novo

-

Yuen2017 G

MAGI1

2-0088-003

chr3:
65916795-65916795

C

A

intronic

De novo

-

Yuen2017 G

MAGI1

AU3713302

chr3:
66010066-66010066

G

A

intronic

De novo

-

Yuen2017 G

MAGI1

1-0481-003

chr3:
66093171-66093171

C

G

intergenic

De novo

-

Yuen2017 G

MAGI1

1566001

chr3:
65367509-65367509

A

C

intronic

De novo

-

Satterstrom2020 E

MAGI1

7-0059-003

chr3:
66030591-66030591

C

T

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0467-003

chr3:
66090846-66090846

T

TC

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0995-003

chr3:
65203348-65203367

TTTATTATTATTATTATTAT

TTTATTATTATTATTAT

intergenic

De novo

-

Yuen2017 G

MAGI1

AU2863302

chr3:
65049956-65049956

G

C

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0452-003

chr3:
65838250-65838250

C

T

intronic

De novo

-

Yuen2017 G

MAGI1

7-0095-003

chr3:
65933656-65933656

A

G

intronic

De novo

-

Yuen2017 G

MAGI1

1-0173-004

chr3:
66090846-66090846

T

TC

intergenic

De novo

-

Yuen2017 G

MAGI1

7-0095-003

chr3:
65933908-65933908

T

C

intronic

De novo

-

Yuen2017 G

MAGI1

AU054304

chr3:
65135128-65135128

G

A

intergenic

De novo

-

Yuen2017 G

MAGI1

7-0058-003

chr3:
65273398-65273398

A

G

intergenic

De novo

-

Yuen2017 G

MAGI1

2-1736-003

chr3:
65629939-65629939

A

G

intronic

De novo

-

Yuen2017 G

MAGI1

1-0381-003

chr3:
65815885-65815885

C

T

intronic

De novo

-

Yuen2017 G

MAGI1

A7

chr3:
65177831-65177831

G

A

intergenic

De novo

-

Wu2018 G

MAGI1

1-0382-003

chr3:
65457195-65457195

T

G

intronic

De novo

-

Yuen2017 G

MAGI1

1-0382-003

chr3:
65456678-65456678

A

G

intronic

De novo

-

Yuen2017 G

MAGI1

1-0546-003

chr3:
65412918-65412918

T

C

intronic

De novo

-

Yuen2017 G

MAGI1

AU017304

chr3:
65312674-65312678

CTCTT

CT

intergenic

De novo

-

Yuen2017 G

MAGI1

AU2410301

chr3:
65217727-65217727

C

T

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0010-003

chr3:
65933908-65933908

T

C

intronic

De novo

-

Yuen2017 G

MAGI1

1-0609-003

chr3:
66002842-66002842

A

G

intronic

De novo

-

Yuen2017 G

MAGI1

1-0665-003

chr3:
65791422-65791422

C

G

intronic

De novo

-

Yuen2017 G

MAGI1

2-0289-004

chr3:
65200182-65200182

T

G

intergenic

De novo

-

Yuen2017 G

MAGI1

2-1620-003

chr3:
65091529-65091529

C

T

intergenic

De novo

-

Yuen2017 G

MAGI1

7-0175-003

chr3:
65004784-65004784

T

C

intergenic

De novo

-

Yuen2017 G

MAGI1

2-1629-003

chr3:
65458907-65458907

A

C

intronic

De novo

-

Yuen2017 G

MAGI1

AU2165301

chr3:
65436008-65436008

G

T

intronic

De novo

-

Yuen2017 G

MAGI1

1-0197-004

chr3:
65206437-65206437

T

G

intergenic

De novo

-

Yuen2017 G

MAGI1

2-0007-004

chr3:
65855846-65855846

A

G

intronic

De novo

-

Yuen2017 G

MAGI1

AU3716302

chr3:
65694102-65694102

G

A

intronic

De novo

-

Yuen2017 G

MAGI1

AU072505

chr3:
65715952-65715952

C

T

intronic

De novo

-

Yuen2017 G

MAGI1

AU4231301

chr3:
65982594-65982594

T

C

intronic

De novo

-

Yuen2017 G

MAGI1

AU072505

chr3:
65744236-65744236

G

C

intronic

De novo

-

Yuen2017 G

MAGI1

1-0197-004

chr3:
66091395-66091395

A

G

intergenic

De novo

-

Yuen2017 G

MAGI1

AU072505

chr3:
65751655-65751655

G

A

intronic

De novo

-

Yuen2017 G

MAGI1

AU1542301

chr3:
65163060-65163060

G

A

intergenic

De novo

-

Yuen2017 G

MAGI1

7-0188-003

chr3:
65968780-65968780

T

C

intronic

De novo

-

Yuen2017 G

MAGI1

A19

chr3:
65375019-65375019

T

G

intronic

De novo

-

Wu2018 G

MAGI1

AU2427301

chr3:
65034184-65034184

C

A

intergenic

De novo

-

Yuen2017 G

MAGI1

258-07-108397

chr3:
65456074-65456074

C

T

exonic

De novo

synonymous SNV

NM_001033057
NM_004742
NM_015520

c.G843A
c.G843A
c.G843A

p.T281T
p.T281T
p.T281T

10.35

1.649E-5

Satterstrom2020 E

MAGI1

1-0401-003

chr3:
65001577-65001577

G

A

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0559-005

chr3:
66090874-66090874

A

C

intergenic

De novo

-

Yuen2017 G

MAGI1

2-0126-004

chr3:
65652162-65652163

GT

G

intronic

De novo

-

Yuen2017 G

MAGI1

2-1317-003

chr3:
65770130-65770130

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAGI1

AU4485302

chr3:
65638480-65638480

C

T

intronic

De novo

-

Yuen2017 G

MAGI1

AU3636302

chr3:
65216792-65216792

A

G

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0045-004

chr3:
65547259-65547260

CT

C

intronic

De novo

-

Yuen2017 G

MAGI1

AU021204

chr3:
66083667-66083667

T

C

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0120-003

chr3:
65195582-65195582

G

C

intergenic

De novo

-

Yuen2017 G

MAGI1

AU3997302

chr3:
65221979-65221979

A

T

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0218-004

chr3:
66091395-66091395

A

G

intergenic

De novo

-

Yuen2017 G

MAGI1

1-0512-003

chr3:
65054854-65054855

TG

T

intergenic

De novo

-

Yuen2017 G

MAGI1

A8

chr3:
65132442-65132442

G

A

intergenic

De novo

-

Wu2018 G

MAGI1

2-1411-003

chr3:
66028320-66028320

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MAGI1

iHART2690

chr3:
65415702-65415702

G

A

exonic

Maternal

stopgain

NM_001033057
NM_004742
NM_015520

c.C1660T
c.C1660T
c.C1660T

p.R554X
p.R554X
p.R554X

37.0

-

Ruzzo2019 G

MAGI1

1-0445-003

chr3:
65052686-65052686

G

A

intergenic

De novo

-

Yuen2017 G

MAGI1

AU4242302

chr3:
65548819-65548819

C

G

intronic

De novo

-

Yuen2017 G

MAGI1

iHART2691

chr3:
65415702-65415702

G

A

exonic

Maternal

stopgain

NM_001033057
NM_004742
NM_015520

c.C1660T
c.C1660T
c.C1660T

p.R554X
p.R554X
p.R554X

37.0

-

Ruzzo2019 G

MAGI1

7-0183-003

chr3:
65682135-65682135

G

C

intronic

De novo

-

Yuen2017 G

MAGI1

7-0183-003

chr3:
65683103-65683103

G

C

intronic

De novo

-

Yuen2017 G

MAGI1

A16

chr3:
65166244-65166244

T

C

intergenic

De novo

-

Wu2018 G

MAGI1

AU3915301

chr3:
65700136-65700136

G

A

intronic

De novo

-

Yuen2017 G

MAGI1

12498.p1

chr3:
65389519-65389519

T

C

intronic

De novo

-

Turner2016 G

MAGI1

13649.p1

chr3:
65854068-65854068

C

T

intronic

De novo

-

Turner2016 G

MAGI1

12795.p1

chr3:
65011056-65011056

C

A

intergenic

De novo

-

Turner2016 G

Source Variant Information

, -

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 notes	View
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