Variant Results

or

Results for "MAGI2"

Variant Events: 144

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

MAGI2

1-0290-003

chr7:
77849957-77849957

A

G

intronic

De novo

-

Yuen2017 G

MAGI2

iHART2361

chr7:
77756735-77756735

T

G

splicing

Maternal

splicing

17.83

-

Ruzzo2019 G

MAGI2

2-0144-004

chr7:
78119970-78119970

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0375-003

chr7:
78683047-78683047

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAGI2

14315.p1

chr7:
77694966-77694966

G

A

intronic

De novo

-

Wilfert2021 G
Zhou2022 GE

MAGI2

AU3712302

chr7:
79080365-79080365

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU4033303

chr7:
78828682-78828682

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-1148-004

chr7:
77754312-77754312

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU4032305

chr7:
77704682-77704682

A

T

intronic

De novo

-

Yuen2017 G

MAGI2

AU4032305

chr7:
78034311-78034311

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0300-004

chr7:
78449139-78449139

C

CA

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

3-0018-000

chr7:
79053546-79053546

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0914-003

chr7:
77857332-77857332

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

7-0143-003

chr7:
78126472-78126472

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0551-004

chr7:
78091265-78091265

G

GAAAAGA

intronic

De novo

-

Yuen2017 G

MAGI2

1-0181-004

chr7:
77878061-77878061

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-0122-004

chr7:
78732169-78732169

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

MSSNG00072-003

chr7:
77766317-77766317

T

A

intronic

De novo

-

Trost2022 G

MAGI2

5-0014-004

chr7:
77766381-77766381

T

TAGAG

intronic

De novo

-

Trost2022 G

MAGI2

3-0143-001

chr7:
77730608-77730608

T

A

intronic

De novo

-

Trost2022 G

MAGI2

2-1659-003

chr7:
77730665-77730665

G

A

intronic

De novo

-

Trost2022 G

MAGI2

1-0160-004

chr7:
78615541-78615547

TATGATC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

10-0001-003

chr7:
77669423-77669423

T

A

intronic

De novo

-

Trost2022 G

MAGI2

2-1182-003

chr7:
78446369-78446369

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAGI2

2-1358-003

chr7:
77790257-77790257

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU055603

chr7:
77953751-77953751

C

A

intronic

De novo

-

Trost2022 G

MAGI2

2-1287-003

chr7:
77975006-77975010

TGGTG

T

intronic

De novo

-

Trost2022 G

MAGI2

2-0142-003

chr7:
77864952-77864954

TTT

CTC

intronic

De novo

-

Trost2022 G

MAGI2

3-0352-000

chr7:
77917638-77917638

C

T

intronic

De novo

-

Trost2022 G

MAGI2

2-1261-004

chr7:
77742964-77742964

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-1306-003

chr7:
78194933-78194933

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

MSSNG00067-003

chr7:
77838265-77838265

C

T

intronic

De novo

-

Trost2022 G

MAGI2

2-0142-003

chr7:
77864949-77864949

A

GAG

intronic

De novo

-

Trost2022 G

MAGI2

AU2075301

chr7:
78025880-78025880

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

SP0156528

chr7:
77789528-77789528

G

C

exonic

De novo

nonsynonymous SNV

NM_001301128
NM_012301

c.C2617G
c.C2659G

p.R873G
p.R887G

21.8

-

Trost2022 G

MAGI2

MSSNG00104-003

chr7:
77829559-77829559

G

A

intronic

De novo

-

Trost2022 G

MAGI2

REACH000150

chr7:
78138902-78138902

T

C

intronic

De novo

-

Trost2022 G

MAGI2

REACH000721

chr7:
78141274-78141274

A

C

intronic

De novo

-

Trost2022 G

MAGI2

5-0003-003

chr7:
78382683-78382683

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0644-003

chr7:
78094366-78094366

T

C

intronic

De novo

-

Trost2022 G

MAGI2

5-0073-003

chr7:
77706887-77706887

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

1-0553-003

chr7:
78095420-78095420

A

G

intronic

De novo

-

Trost2022 G

MAGI2

2-1501-003

chr7:
78050128-78050128

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-1781-003

chr7:
78069197-78069197

G

T

intronic

De novo

-

Trost2022 G

MAGI2

2-1501-003

chr7:
78046123-78046123

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

7-0080-003

chr7:
78079382-78079382

A

AT

intronic

De novo

-

Trost2022 G

MAGI2

5-5186-003

chr7:
77975573-77975573

A

G

intronic

De novo

-

Trost2022 G

MAGI2

D4S2Z-01

chr7:
78285325-78285325

G

A

intronic

De novo

-

Trost2022 G

MAGI2

2-0256-004

chr7:
78335901-78335902

AC

A

intronic

De novo

-

Trost2022 G

MAGI2

MT_170.3

chr7:
78252911-78252911

G

A

intronic

De novo

-

Trost2022 G

MAGI2

A22

chr7:
78127051-78127051

A

G

intronic

De novo

-

Wu2018 G

MAGI2

2-1501-003

chr7:
78050251-78050251

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

SJD_79.3

chr7:
78255749-78255749

C

T

intronic

De novo

-

Trost2022 G

MAGI2

REACH000533

chr7:
78157026-78157026

C

A

intronic

De novo

-

Trost2022 G

MAGI2

MSSNG00127-003

chr7:
78169193-78169193

C

T

intronic

De novo

-

Trost2022 G

MAGI2

AU2256301

chr7:
77756514-77756514

C

G

exonic

nonsynonymous SNV

NM_001301128
NM_012301

c.G3381C
c.G3423C

p.Q1127H
p.Q1141H

19.22

-

Zhou2022 GE

MAGI2

MSSNG00213-003

chr7:
78146622-78146622

C

G

intronic

De novo

-

Trost2022 G

MAGI2

mAGRE2361

chr7:
77756735-77756735

T

G

splicing

Maternal

splicing

17.83

-

Cirnigliaro2023 G

MAGI2

1-1223-003

chr7:
78147417-78147417

T

C

intronic

De novo

-

Trost2022 G

MAGI2

3-0659-000

chr7:
78545581-78545581

G

A

intronic

De novo

-

Trost2022 G

MAGI2

MT_50.3

chr7:
78557376-78557376

C

T

intronic

De novo

-

Trost2022 G

MAGI2

AU004403

chr7:
78504353-78504353

A

C

intronic

De novo

-

Trost2022 G

MAGI2

MT_192.3

chr7:
78514270-78514270

T

C

intronic

De novo

-

Trost2022 G

MAGI2

7-0365-003

chr7:
78446343-78446343

T

C

intronic

De novo

-

Trost2022 G

MAGI2

MSSNG00386-003

chr7:
78459613-78459613

A

G

intronic

De novo

-

Trost2022 G

MAGI2

SJD_61.3

chr7:
78385050-78385050

C

A

intronic

De novo

-

Trost2022 G

MAGI2

REACH000194

chr7:
78391657-78391657

G

A

intronic

De novo

-

Trost2022 G

MAGI2

1-0362-003

chr7:
78686912-78686912

C

T

intronic

De novo

-

Trost2022 G

MAGI2

MT_195.4

chr7:
78687038-78687038

C

T

intronic

De novo

-

Trost2022 G

MAGI2

3-0703-000

chr7:
78677430-78677432

TCT

ATA

intronic

De novo

-

Trost2022 G

MAGI2

1-0169-003

chr7:
78684193-78684193

G

A

intronic

De novo

-

Trost2022 G

MAGI2

MSSNG00396-003

chr7:
78589341-78589341

C

G

intronic

De novo

-

Trost2022 G

MAGI2

AU2310301

chr7:
78667962-78667962

A

C

intronic

De novo

-

Trost2022 G

MAGI2

AU3807302

chr7:
78277394-78277394

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

AU055603

chr7:
78582389-78582389

T

C

intronic

De novo

-

Trost2022 G

MAGI2

REACH000341

chr7:
78589247-78589247

T

C

intronic

De novo

-

Trost2022 G

MAGI2

10-1104-003

chr7:
78753981-78753981

C

T

intronic

De novo

-

Trost2022 G

MAGI2

4-0108-003

chr7:
78758541-78758541

A

T

intronic

De novo

-

Trost2022 G

MAGI2

1-0952-003

chr7:
78743614-78743618

GGTTG

AT

intronic

De novo

-

Trost2022 G

MAGI2

2-1562-004

chr7:
77794560-77794560

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

MSSNG00365-003

chr7:
78749031-78749031

C

T

intronic

De novo

-

Trost2022 G

MAGI2

REACH000555

chr7:
78726419-78726419

C

T

intronic

De novo

-

Trost2022 G

MAGI2

AU4231301

chr7:
78229961-78229961

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0944-003

chr7:
78735388-78735388

A

C

intronic

De novo

-

Trost2022 G

MAGI2

7-0458-003

chr7:
78716113-78716113

A

C

intronic

De novo

-

Trost2022 G

MAGI2

MSSNG00006-004

chr7:
78721094-78721094

A

G

intronic

De novo

-

Trost2022 G

MAGI2

1-0274-004

chr7:
78540808-78540808

A

G

intronic

De novo

-

Yuen2017 G

MAGI2

1005

chr7:
78858890-78858890

T

C

intronic

De novo

-

Trost2022 G

MAGI2

1-0944-003

chr7:
78875537-78875537

C

G

intronic

De novo

-

Trost2022 G

MAGI2

4-0062-003

chr7:
78825859-78825861

ATT

GTC

intronic

De novo

-

Trost2022 G

MAGI2

1-0760-003

chr7:
78846859-78846859

T

C

intronic

De novo

-

Trost2022 G

MAGI2

1-0589-003

chr7:
78778350-78778350

G

T

intronic

De novo

-

Trost2022 G

MAGI2

AU4092302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

MAGI2

3-0719-000

chr7:
78761164-78761164

C

T

intronic

De novo

-

Trost2022 G

MAGI2

AU2109301

chr7:
78260101-78260101

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

SJD_65.3

chr7:
78763693-78763693

G

A

intronic

De novo

-

Trost2022 G

MAGI2

MSSNG00417-003

chr7:
79042369-79042369

A

C

intronic

De novo

-

Trost2022 G

MAGI2

AU2137304

chr7:
79054018-79054018

C

CA

intronic

De novo

-

Trost2022 G

MAGI2

2-0296-004

chr7:
78823901-78823901

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU4468301

chr7:
78948889-78948891

TAG

T

intronic

De novo

-

Trost2022 G

MAGI2

5-5123-005

chr7:
78965817-78965817

A

G

intronic

De novo

-

Trost2022 G

MAGI2

SJD_54.3

chr7:
78923854-78923854

C

T

intronic

De novo

-

Trost2022 G

MAGI2

3-0143-001

chr7:
78932442-78932442

T

C

intronic

De novo

-

Trost2022 G

MAGI2

14-613

chr7:
78876529-78876529

A

G

intronic

De novo

-

Trost2022 G

MAGI2

3-0029-000

chr7:
78907292-78907292

T

C

intronic

De novo

-

Trost2022 G

MAGI2

2-1379-003

chr7:
78010455-78010455

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MAGI2

AU3911301

chr7:
77837433-77837433

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

MSSNG00333-003

chr7:
79065637-79065637

G

A

intronic

De novo

-

Trost2022 G

MAGI2

3-0835-000

chr7:
79065876-79065876

C

T

intronic

De novo

-

Trost2022 G

MAGI2

1-0567-004

chr7:
77701363-77701363

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0906-003

chr7:
78925133-78925133

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU070703

chr7:
78318651-78318651

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0763-004

chr7:
78288932-78288932

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

1-0454-003

chr7:
78022046-78022046

C

T

intronic

De novo

-

Yuen2016 G

MAGI2

2-1290-003

chr7:
78123411-78123411

A

AGCCT

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU1933301

chr7:
78942219-78942219

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU1933301

chr7:
78946715-78946715

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-1561-003

chr7:
78792858-78792858

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

12493.p1

chr7:
78823948-78823948

A

G

intronic

De novo

-

Turner2016 G

MAGI2

2-1306-004

chr7:
77737192-77737192

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

13069.p1

chr7:
79079199-79079199

T

C

intronic

De novo

-

Turner2016 G

MAGI2

AU4344301

chr7:
79024135-79024135

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-0132-004

chr7:
78636933-78636933

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU009903

chr7:
78785135-78785135

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-0132-004

chr7:
78220265-78220265

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-0286-004

chr7:
77750419-77750419

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU3610302

chr7:
78829649-78829649

G

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-1633-003

chr7:
78688835-78688835

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-1266-003

chr7:
77747481-77747481

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

7-0197-003

chr7:
78943768-78943768

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-1085-004

chr7:
78407841-78407841

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

5-0061-003

chr7:
78407714-78407714

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

7-0001-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

SP0080549

chr7:
77649126-77649126

G

A

exonic

De novo

nonsynonymous SNV

NM_001301128
NM_012301

c.C3832T
c.C3874T

p.H1278Y
p.H1292Y

12.75

1.658E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MAGI2

7-0128-003

chr7:
77790993-77791017

AAAAAAAAAAAAGAAAAAAAAAAAG

AAAAAAAAAAAAG

intronic

De novo

-

Yuen2017 G

MAGI2

SP0093984

chr7:
79082595-79082595

T

C

exonic

De novo

synonymous SNV

NM_001301128
NM_012301

c.A42G
c.A42G

p.K14K
p.K14K

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MAGI2

SP0057168

chr7:
77885598-77885598

T

A

exonic

De novo

nonsynonymous SNV

NM_001301128
NM_012301

c.A1709T
c.A1709T

p.H570L
p.H570L

15.13

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MAGI2

AU2495301

chr7:
78956178-78956178

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-1592-003

chr7:
77936242-77936242

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

2-1290-004

chr7:
78123411-78123411

A

AGCCT

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAGI2

AU2162302

chr7:
78864325-78864325

A

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-1329-003

chr7:
77670983-77670983

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-0202-004

chr7:
77737192-77737192

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

SP0009216

chr7:
78119221-78119221

G

A

intronic

De novo

-

Fu2022 E

Source Variant Information

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Paper Information

Title
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Technology
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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.
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