Variant Results

or

Results for "MEF2C"

Variant Events: 27

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

MEF2C

3-0456-000

chr5:
88107432-88107432

C

T

intronic

De novo

-

Yuen2017 G

MEF2C

ACGC_GX0403.p1

chr5:
88024430-88024441

CTACTCAGAGAG

C

exonic

De novo

frameshift deletion

NM_001193348
NM_001193349
NM_001308002
NM_001131005
NM_001193350
NM_002397
NM_001193347

c.801_811del
c.825_835del
c.945_955del
c.939_949del
c.969_979del
c.969_979del
c.999_1009del

p.Y267fs
p.Y275fs
p.Y315fs
p.Y313fs
p.Y323fs
p.Y323fs
p.Y333fs

-

Wang2020 T

MEF2C

14475.p1

chr5:
88018537-88018537

G

C

exonic

Mosaic

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001131005
NM_001193350
NM_002397
NM_001193347

c.C1138G
c.C1066G
c.C1282G
c.C1276G
c.C1306G
c.C1306G
c.C1336G

p.R380G
p.R356G
p.R428G
p.R426G
p.R436G
p.R436G
p.R446G

16.61

-

Dou2017 E
Lim2017 E

MEF2C

B0806

chr5:
88100551-88100551

C

T

exonic

De novo

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.G122A
c.G122A
c.G122A
c.G122A
c.G122A
c.G122A
c.G122A

p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y

30.0

-

Xiong2019 ET

MEF2C

ACGC_GD0174.p1

chr5:
88044920-88044920

C

A

exonic

De novo

stopgain

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.G460T
c.G460T
c.G604T
c.G604T
c.G604T
c.G598T
c.G658T

p.G154X
p.G154X
p.G202X
p.G202X
p.G202X
p.G200X
p.G220X

45.0

-

Wang2020 T

MEF2C

10C112390

chr5:
88100432-88100432

T

C

exonic

De novo, Unknown

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.A241G
c.A241G
c.A241G
c.A241G
c.A241G
c.A241G
c.A241G

p.N81D
p.N81D
p.N81D
p.N81D
p.N81D
p.N81D
p.N81D

33.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T

MEF2C

ACGC_GX0422.p1

chr5:
88027558-88027559

CG

C

exonic

De novo

frameshift deletion

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.653delC
c.653delC
c.797delC
c.797delC
c.797delC
c.791delC
c.851delC

p.T218fs
p.T218fs
p.T266fs
p.T266fs
p.T266fs
p.T264fs
p.T284fs

-

Wang2020 T

MEF2C

2-1567-003

chr5:
88164062-88164062

T

C

intronic

De novo

-

Yuen2017 G

MEF2C

2-1297-003

chr5:
88029691-88029691

T

C

intronic

De novo

-

Yuen2017 G

MEF2C

AU065903

chr5:
88027590-88027590

G

A

exonic

De novo

stopgain

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.C622T
c.C622T
c.C766T
c.C766T
c.C766T
c.C760T
c.C820T

p.R208X
p.R208X
p.R256X
p.R256X
p.R256X
p.R254X
p.R274X

42.0

-

Zhou2019 T

MEF2C

3-0456-000B

chr5:
88107432-88107432

C

T

intronic

De novo

-

Yuen2017 G

MEF2C

2-1442-003

chr5:
88146092-88146092

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MEF2C

AU072905

chr5:
88146926-88146926

T

A

intronic

De novo

-

Yuen2017 G

MEF2C

Mahjani2021:44

chr5:
88119580-88119580

G

A

exonic

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.C26T
c.C26T
c.C26T
c.C26T
c.C26T
c.C26T
c.C26T

p.T9M
p.T9M
p.T9M
p.T9M
p.T9M
p.T9M
p.T9M

22.0

-

Mahjani2021 E

MEF2C

AU4129303

chr5:
88153269-88153269

G

T

intronic

De novo

-

Yuen2017 G

MEF2C

ACGC_HN0174.p1

chr5:
88100564-88100564

C

T

exonic

Maternal

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.G109A
c.G109A
c.G109A
c.G109A
c.G109A
c.G109A
c.G109A

p.V37M
p.V37M
p.V37M
p.V37M
p.V37M
p.V37M
p.V37M

34.0

8.247E-6

Wang2020 T

MEF2C

2-1567-004

chr5:
88164062-88164062

T

C

intronic

De novo

-

Yuen2017 G

MEF2C

AGRE_07C71025

chr5:
88024446-88024451

CTAGAT

C

splicing

Unknown

splicing

-

Wang2020 T

MEF2C

5113_201_child

chr5:
88100432-88100432

T

C

exonic

De novo

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.A241G
c.A241G
c.A241G
c.A241G
c.A241G
c.A241G
c.A241G

p.N81D
p.N81D
p.N81D
p.N81D
p.N81D
p.N81D
p.N81D

33.0

-

Neale2012 E

MEF2C

2-0110-003

chr5:
88057155-88057155

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MEF2C

SP0017349

chr5:
88119551-88119555

CCTGT

C

exonic

De novo

frameshift deletion

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.51_54del
c.51_54del
c.51_54del
c.51_54del
c.51_54del
c.51_54del
c.51_54del

p.R17fs
p.R17fs
p.R17fs
p.R17fs
p.R17fs
p.R17fs
p.R17fs

-

Fu2022 E

MEF2C

Chen2021:63

chr5:
88100551-88100551

C

T

exonic

De novo

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.G122A
c.G122A
c.G122A
c.G122A
c.G122A
c.G122A
c.G122A

p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y

30.0

-

Chen2021 GET

MEF2C

SF0015766.p1

chr5:
88100615-88100615

T

C

exonic

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.A58G
c.A58G
c.A58G
c.A58G
c.A58G
c.A58G
c.A58G

p.T20A
p.T20A
p.T20A
p.T20A
p.T20A
p.T20A
p.T20A

27.8

-

Wang2020 T

MEF2C

SP0015766

chr5:
88100615-88100615

T

C

exonic

De novo

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.A58G
c.A58G
c.A58G
c.A58G
c.A58G
c.A58G
c.A58G

p.T20A
p.T20A
p.T20A
p.T20A
p.T20A
p.T20A
p.T20A

27.8

-

Antaki2022 GE
Fu2022 E

MEF2C

SMHC01432s000

chr5:
88119562-88119562

C

T

exonic

De novo

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.G44A
c.G44A
c.G44A
c.G44A
c.G44A
c.G44A
c.G44A

p.R15H
p.R15H
p.R15H
p.R15H
p.R15H
p.R15H
p.R15H

23.5

-

Yuan2023 E

MEF2C

SF0065777.p1

chr5:
88119563-88119563

G

A

exonic

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.C43T
c.C43T
c.C43T
c.C43T
c.C43T
c.C43T
c.C43T

p.R15C
p.R15C
p.R15C
p.R15C
p.R15C
p.R15C
p.R15C

21.3

-

Wang2020 T

MEF2C

SP0065777

chr5:
88119563-88119563

G

A

exonic

De novo

nonsynonymous SNV

NM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347

c.C43T
c.C43T
c.C43T
c.C43T
c.C43T
c.C43T
c.C43T

p.R15C
p.R15C
p.R15C
p.R15C
p.R15C
p.R15C
p.R15C

21.3

-

Antaki2022 GE
Fu2022 E

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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