Variant Results

or

Results for "MEGF8"

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

MEGF8

AU3889305

chr19:
42833198-42833198

C

T

intronic

De novo

-

Yuen2017 G

MEGF8

1-0435-003

chr19:
42880307-42880307

C

T

exonic

De novo

nonsynonymous SNV

NM_001410
NM_001271938

c.C7717T
c.C7918T

p.R2573W
p.R2640W

21.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MEGF8

5-0072-003

chr19:
42829891-42829891

C

T

UTR5

De novo

-

Trost2022 G
Trost2022 G

MEGF8

SP0039295

chr19:
42864992-42864992

C

T

exonic

De novo

nonsynonymous SNV

NM_001410
NM_001271938

c.C5353T
c.C5554T

p.R1785C
p.R1852C

22.8

2.374E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MEGF8

SP0011744

chr19:
42879806-42879806

G

A

exonic

De novo

nonsynonymous SNV

NM_001410
NM_001271938

c.G7216A
c.G7417A

p.G2406S
p.G2473S

34.0

1.173E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MEGF8

111309

chr19:
42857121-42857121

C

T

exonic

nonsynonymous SNV

NM_001410
NM_001271938

c.C3191T
c.C3392T

p.P1064L
p.P1131L

21.9

1.852E-5

Woodbury-Smith2022 E

MEGF8

SP0067361

chr19:
42879654-42879654

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MEGF8

SP0054026

chr19:
42872588-42872588

T

A

intronic

De novo

-

Trost2022 G

MEGF8

PN400100

chr19:
42855822-42855822

C

T

exonic

Unknown

nonsynonymous SNV

NM_001410
NM_001271938

c.C2809T
c.C3010T

p.R937W
p.R1004W

18.56

8.0E-4

Leblond2019 E

MEGF8

SP0042941

chr19:
42863406-42863406

T

C

intronic

De novo

-

0.0012

Trost2022 G

MEGF8

11798.p1

chr19:
42867226-42867226

C

G

exonic

De novo

nonsynonymous SNV

NM_001410
NM_001271938

c.C5884G
c.C6085G

p.Q1962E
p.Q2029E

7.187

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

MEGF8

SP0163486

chr19:
42847643-42847643

C

A

exonic

De novo

nonsynonymous SNV

NM_001271938
NM_001410

c.C1528A
c.C1528A

p.P510T
p.P510T

13.93

-

Trost2022 G

MEGF8

REACH000544

chr19:
42846080-42846080

C

T

intronic

De novo

-

Trost2022 G

MEGF8

7-0233-003

chr19:
42831376-42831377

GC

AT

intronic

De novo

-

Trost2022 G

MEGF8

1-0568-003

chr19:
42831376-42831377

GC

AT

intronic

De novo

-

Trost2022 G

MEGF8

08C76752

chr19:
42866550-42866550

C

T

exonic

De novo

synonymous SNV

NM_001410
NM_001271938

c.C5658T
c.C5859T

p.R1886R
p.R1953R

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MEGF8

Wang2023:254

chr19:
42855816-42855816

C

T

exonic

De novo

nonsynonymous SNV

NM_001410
NM_001271938

c.C2803T
c.C3004T

p.R935W
p.R1002W

20.9

-

Wang2023 E

MEGF8

SSC03538

chr19:
42867226-42867226

C

G

exonic

De novo

nonsynonymous SNV

NM_001410
NM_001271938

c.C5884G
c.C6085G

p.Q1962E
p.Q2029E

7.187

-

Fu2022 E
Lim2017 E
Trost2022 G

MEGF8

5C460

chr19:
42855869-42855869

C

T

exonic

De novo

synonymous SNV

NM_001410
NM_001271938

c.C2856T
c.C3057T

p.H952H
p.H1019H

-

4.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MEGF8

AU2782301

chr19:
42866550-42866550

C

T

exonic

synonymous SNV

NM_001410
NM_001271938

c.C5658T
c.C5859T

p.R1886R
p.R1953R

-

Zhou2022 GE

MEGF8

PN400499

chr19:
42879810-42879810

G

A

exonic

Unknown

nonsynonymous SNV

NM_001410
NM_001271938

c.G7220A
c.G7421A

p.R2407H
p.R2474H

28.8

0.005

Leblond2019 E

MEGF8

AU1933302

chr19:
42829699-42829699

G

C

downstream;upstream

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

MEGF8

PN400371

chr19:
42879810-42879810

G

A

exonic

Unknown

nonsynonymous SNV

NM_001410
NM_001271938

c.G7220A
c.G7421A

p.R2407H
p.R2474H

28.8

0.005

Leblond2019 E

MEGF8

mAGRE5415

chr19:
42838297-42838297

T

TG

exonic

Paternal

frameshift insertion

NM_001271938
NM_001410

c.491dupG
c.491dupG

p.W164fs
p.W164fs

-

2.0E-4

Cirnigliaro2023 G

MEGF8

HI0085

chr19:
42841016-42841016

G

A

exonic

De novo

synonymous SNV

NM_001271938
NM_001410

c.G1302A
c.G1302A

p.T434T
p.T434T

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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