Variant Results

or

or

Results for "MEGF6"

Variant Events: 25

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

MEGF6

SSC11183

chr1:
3519083-3519083

C

T

exonic

De novo

synonymous SNV

NM_001409

c.G213A

p.P71P

-

Fu2022 E
Lim2017 E

MEGF6

AU3912301

chr1:
3406802-3406802

G

A

UTR3

De novo

-

-

Yuen2017 G

MEGF6

SP0021602

chr1:
3407172-3407172

G

C

intronic

De novo

-

-

Fu2022 E

MEGF6

SP0024054

chr1:
3418607-3418607

G

A

intronic

De novo

-

-

Fu2022 E

MEGF6

SP0067210

chr1:
3421986-3421986

C

T

exonic

De novo

nonsynonymous SNV

NM_001409

c.G2053A

p.E685K

7.734

-

Fu2022 E

MEGF6

9190761

chr1:
3413323-3413323

G

A

exonic

De novo

nonsynonymous SNV

NM_001409

c.C3638T

p.P1213L

38.0

-

Fu2022 E

MEGF6

2-1358-003

chr1:
3532918-3532918

G

T

intergenic

De novo

-

-

Yuen2017 G

MEGF6

133343

chr1:
3428641-3428641

T

C

exonic

nonsynonymous SNV

NM_001409

c.A905G

p.N302S

20.7

Woodbury-Smith2022 E

MEGF6

CC955.201

chr1:
3511883-3511883

A

C

intronic

De novo

-

-

Satterstrom2020 E

MEGF6

TRE_1211

chr1:
3422721-3422721

G

A

exonic

De novo

synonymous SNV

NM_001409

c.C1869T

p.Y623Y

-

Fu2022 E

MEGF6

13969_p1

chr1:
3512007-3512007

C

T

exonic

De novo

nonsynonymous SNV

NM_001409

c.G271A

p.V91I

0.886

Fu2022 E

MEGF6

AU002405

chr1:
3500815-3500815

G

A

intronic

De novo

-

-

Yuen2017 G

MEGF6

7-0197-003

chr1:
3473705-3473705

G

A

intronic

De novo

-

-

Yuen2017 G

MEGF6

14551.p1

chr1:
3410464-3410464

C

A

splicing

Mosaic

splicing

8.346

-

Dou2017 E

MEGF6

A000386

chr1:
3431211-3431211

G

A

exonic

De novo

synonymous SNV

NM_001409

c.C756T

p.N252N

-

Fu2022 E

MEGF6

14075.p1

chr1:
3519049-3519050

AC

A

exonic

De novo

frameshift deletion

NM_001409

c.246delG

p.W82fs

-

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MEGF6

14139.p1

chr1:
3519083-3519083

C

T

exonic

De novo

synonymous SNV

NM_001409

c.G213A

p.P71P

-

Krumm2015 E
Satterstrom2020 E

MEGF6

1-0493-003

chr1:
3457192-3457192

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MEGF6

1-0068-003

chr1:
3417015-3417015

G

A

intronic

De novo

-

-

Yuen2017 G

MEGF6

AU4060306

chr1:
3481907-3481907

G

A

intronic

De novo

-

-

Yuen2017 G

MEGF6

08C72540

chr1:
3428259-3428259

G

C

intronic

De novo

-

-

Fu2022 E
Satterstrom2020 E

MEGF6

1-0448-003

chr1:
3408639-3408639

C

T

intronic

De novo

-

-

Yuen2017 G

MEGF6

2-1506-003

chr1:
3536121-3536121

C

T

intergenic

De novo

-

-

Yuen2017 G

MEGF6

AU056804

chr1:
3413948-3413948

G

A

intronic

De novo

-

-

Yuen2017 G

MEGF6

AU4186302

chr1:
3500449-3500449

C

T

intronic

De novo

-

-

Yuen2017 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 notes	View
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