Variant Results

or

Results for "MAGI2"

Variant Events: 72

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

1-0567-004

chr7:
77701363-77701363

C

T

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

-

Yuen2017 G

MAGI2

1-0375-003

chr7:
78683047-78683047

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAGI2

1-0906-003

chr7:
78925133-78925133

T

G

intronic

De novo

-

Yuen2017 G

MAGI2

14315.p1

chr7:
77694966-77694966

G

A

intronic

De novo

-

Wilfert2021 G

MAGI2

AU3712302

chr7:
79080365-79080365

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

AU4033303

chr7:
78828682-78828682

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-1148-004

chr7:
77754312-77754312

C

G

intronic

De novo

-

Yuen2017 G

MAGI2

AU070703

chr7:
78318651-78318651

C

G

intronic

De novo

-

Yuen2017 G

MAGI2

AU4032305

chr7:
77704682-77704682

A

T

intronic

De novo

-

Yuen2017 G

MAGI2

AU4032305

chr7:
78034311-78034311

C

G

intronic

De novo

-

Yuen2017 G

MAGI2

1-0300-004

chr7:
78449139-78449139

C

CA

intronic

De novo

-

Yuen2017 G

MAGI2

1-0763-004

chr7:
78288932-78288932

T

C

intronic

De novo

-

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

-

Yuen2017 G

MAGI2

AU1933301

chr7:
78942219-78942219

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

AU1933301

chr7:
78946715-78946715

C

G

intronic

De novo

-

Yuen2017 G

MAGI2

3-0018-000

chr7:
79053546-79053546

A

G

intronic

De novo

-

Yuen2017 G

MAGI2

1-0914-003

chr7:
77857332-77857332

A

G

intronic

De novo

-

Yuen2017 G

MAGI2

7-0143-003

chr7:
78126472-78126472

T

C

intronic

De novo

-

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

-

Yuen2017 G

MAGI2

2-1561-003

chr7:
78792858-78792858

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-0122-004

chr7:
78732169-78732169

T

C

intronic

De novo

-

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

-

Yuen2017 G

MAGI2

2-0132-004

chr7:
78636933-78636933

A

G

intronic

De novo

-

Yuen2017 G

MAGI2

AU009903

chr7:
78785135-78785135

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-0132-004

chr7:
78220265-78220265

G

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-0286-004

chr7:
77750419-77750419

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

AU3610302

chr7:
78829649-78829649

G

T

intronic

De novo

-

Yuen2017 G

MAGI2

1-0160-004

chr7:
78615541-78615547

TATGATC

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-1633-003

chr7:
78688835-78688835

A

G

intronic

De novo

-

Yuen2017 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

-

Yuen2017 G

MAGI2

2-1261-004

chr7:
77742964-77742964

C

A

intronic

De novo

-

Yuen2017 G

MAGI2

2-1306-003

chr7:
78194933-78194933

T

A

intronic

De novo

-

Yuen2017 G

MAGI2

AU2075301

chr7:
78025880-78025880

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-1266-003

chr7:
77747481-77747481

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

5-0003-003

chr7:
78382683-78382683

C

G

intronic

De novo

-

Yuen2017 G

MAGI2

5-0073-003

chr7:
77706887-77706887

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-1501-003

chr7:
78050128-78050128

G

C

intronic

De novo

-

Yuen2017 G

MAGI2

7-0197-003

chr7:
78943768-78943768

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

2-1501-003

chr7:
78046123-78046123

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-1085-004

chr7:
78407841-78407841

A

G

intronic

De novo

-

Yuen2017 G

MAGI2

5-0061-003

chr7:
78407714-78407714

G

C

intronic

De novo

-

Yuen2017 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

-

Yuen2017 G

MAGI2

7-0001-003

chr7:
77806374-77806389

TTATATATATATATAT

TTATATATATATATATAT

intronic

De novo

-

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

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

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

MAGI2

AU3807302

chr7:
78277394-78277394

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-1562-004

chr7:
77794560-77794560

T

G

intronic

De novo

-

Yuen2017 G

MAGI2

AU4231301

chr7:
78229961-78229961

C

T

intronic

De novo

-

Yuen2017 G

MAGI2

1-0274-004

chr7:
78540808-78540808

A

G

intronic

De novo

-

Yuen2017 G

MAGI2

AU2495301

chr7:
78956178-78956178

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-1592-003

chr7:
77936242-77936242

G

A

intronic

De novo

-

Yuen2017 G

MAGI2

AU2109301

chr7:
78260101-78260101

T

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-1290-004

chr7:
78123411-78123411

A

AGCCT

intronic

De novo

-

Yuen2017 G

MAGI2

AU2162302

chr7:
78864325-78864325

A

C

intronic

De novo

-

Yuen2017 G

MAGI2

2-0296-004

chr7:
78823901-78823901

C

G

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

2-1379-003

chr7:
78010455-78010455

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAGI2

SP0009216

chr7:
78119221-78119221

G

A

intronic

De novo

-

Fu2022 E

MAGI2

AU3911301

chr7:
77837433-77837433

C

T

intronic

De novo

-

Yuen2017 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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