Variant Results

or

Results for "MEGF11"

Variant Events: 39

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

MEGF11

AU3586303

chr15:
66515751-66515751

G

C

intronic

De novo

-

Yuen2017 G

MEGF11

SP0077342

chr15:
66274556-66274556

T

A

intronic

De novo

-

Fu2022 E

MEGF11

12056.p1

chr15:
66198459-66198459

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_032445

c.C2731T

p.R911C

16.38

1.0E-4

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E

MEGF11

SP0061192

chr15:
66204396-66204396

G

A

intronic

De novo

-

Fu2022 E

MEGF11

11205.p1

chr15:
66208524-66208524

G

A

exonic

De novo

nonsynonymous SNV

NM_032445

c.C2306T

p.T769I

20.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

MEGF11

1-0206-004

chr15:
66387134-66387134

C

G

intronic

De novo

-

Yuen2017 G

MEGF11

SP0056461

chr15:
66191332-66191332

A

C

intronic

De novo

-

Fu2022 E

MEGF11

SP0007019

chr15:
66207896-66207896

T

C

exonic

De novo

synonymous SNV

NM_032445

c.A2385G

p.L795L

16.43

-

Fu2022 E

MEGF11

2-0013-003

chr15:
66202232-66202232

C

A

intronic

De novo

-

Yuen2017 G

MEGF11

PN400117

chr15:
66206090-66206090

C

T

exonic

Unknown

nonsynonymous SNV

NM_032445

c.G2695A

p.D899N

25.5

0.001

Leblond2019 E

MEGF11

2-1502-003

chr15:
66450364-66450364

C

T

intronic

De novo

-

Yuen2017 G

MEGF11

PN400530

chr15:
66206090-66206090

C

T

exonic

Unknown

nonsynonymous SNV

NM_032445

c.G2695A

p.D899N

25.5

0.001

Leblond2019 E

MEGF11

PN400261

chr15:
66206090-66206090

C

T

exonic

Unknown

nonsynonymous SNV

NM_032445

c.G2695A

p.D899N

25.5

0.001

Leblond2019 E

MEGF11

5333

chr15:
66208524-66208524

G

A

exonic

De novo

nonsynonymous SNV

NM_032445

c.C2306T

p.T769I

20.7

-

Fu2022 E

MEGF11

1-0551-003

chr15:
66297091-66297091

A

G

intronic

De novo

-

Yuen2017 G

MEGF11

2-0182-003

chr15:
66190148-66190148

G

C

UTR3

De novo

-

Yuen2017 G

MEGF11

PN400100

chr15:
66206090-66206090

C

T

exonic

Unknown

nonsynonymous SNV

NM_032445

c.G2695A

p.D899N

25.5

0.001

Leblond2019 E

MEGF11

2-1210-003

chr15:
66345862-66345862

C

T

intronic

De novo

-

Yuen2017 G

MEGF11

PN400284

chr15:
66206090-66206090

C

T

exonic

Unknown

nonsynonymous SNV

NM_032445

c.G2695A

p.D899N

25.5

0.001

Leblond2019 E

MEGF11

2-0018-004

chr15:
66363292-66363292

T

G

intronic

De novo

-

Yuen2017 G

MEGF11

iHART3215

chr15:
66250017-66250017

C

T

exonic

Paternal

stopgain

NM_032445

c.G1155A

p.W385X

37.0

-

Ruzzo2019 G

MEGF11

1-0460-003

chr15:
66412290-66412290

C

A

intronic

De novo

-

Yuen2017 G

MEGF11

PN400554

chr15:
66206090-66206090

C

T

exonic

Unknown

nonsynonymous SNV

NM_032445

c.G2695A

p.D899N

25.5

0.001

Leblond2019 E

MEGF11

5-0073-003

chr15:
66266605-66266626

TAAGAGGAGGGGCTGAGGCGGG

T

intronic

De novo

-

Yuen2017 G

MEGF11

NDAR_INVVT972LG7_wes1

chr15:
66210324-66210324

A

G

exonic

De novo

nonsynonymous SNV

NM_032445

c.T2066C

p.I689T

5.042

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MEGF11

AU2000305

chr15:
66310794-66310794

G

A

intronic

De novo

-

Yuen2017 G

MEGF11

1-0629-003

chr15:
66373105-66373105

C

T

intronic

De novo

-

Yuen2017 G

MEGF11

AU3808304

chr15:
66353674-66353678

GTTTT

GTT

intronic

De novo

-

Yuen2017 G

MEGF11

1-0458-003

chr15:
66362067-66362067

T

C

intronic

De novo

-

Yuen2017 G

MEGF11

Codina-Sola2015:ASD_7

chr15:
66210326-66210326

C

T

exonic

Maternal

stopgain

NM_032445

c.G2064A

p.W688X

40.0

-

Codina-Sola2015 E

MEGF11

AU4012302

chr15:
66566868-66566868

G

A

intergenic

De novo

-

Yuen2017 G

MEGF11

A31

chr15:
66301393-66301393

A

C

intronic

De novo

-

Wu2018 G

MEGF11

Uddin2014:28

chr15:
66198459-66198459

G

A

exonic

De novo

nonsynonymous SNV

NM_032445

c.C2731T

p.R911C

16.38

1.0E-4

Uddin2014 E

MEGF11

AU3997302

chr15:
66491015-66491015

G

A

intronic

De novo

-

Yuen2017 G

MEGF11

Lim2017:5333

chr15:
66208524-66208524

G

A

exonic

De novo

nonsynonymous SNV

NM_032445

c.C2306T

p.T769I

20.7

-

Lim2017 E

MEGF11

SSC04732

chr15:
66198459-66198459

G

A

exonic

Mosaic

nonsynonymous SNV

NM_032445

c.C2731T

p.R911C

16.38

1.0E-4

Lim2017 E

MEGF11

2-0310-004

chr15:
66229243-66229243

G

A

intronic

De novo

-

Yuen2017 G

MEGF11

1-0142-005

chr15:
66341143-66341143

T

C

intronic

De novo

-

Yuen2017 G

MEGF11

1-0045-003

chr15:
66370504-66370505

CA

C

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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