Variant Results

or

Results for "MEF2D"

Variant Events: 14

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

MEF2D

74-0352

chr1:
156488733-156488733

T

C

intergenic

De novo

-

Michaelson2012 G

MEF2D

1-0539-003

chr1:
156474465-156474465

G

A

intergenic

De novo

-

Yuen2017 G

MEF2D

2-0122-003

chr1:
156481992-156481992

G

GC

intergenic

De novo

-

Yuen2017 G

MEF2D

ACGC_GX0224.p1

chr1:
156446845-156446845

C

T

exonic

Maternal

nonsynonymous SNV

NM_001271629
NM_005920

c.G814A
c.G814A

p.V272I
p.V272I

35.0

-

Wang2020 T

MEF2D

SP0247131

chr1:
156437977-156437977

G

T

exonic

De novo

synonymous SNV

NM_001271629
NM_005920

c.C1341A
c.C1362A

p.P447P
p.P454P

-

Trost2022 G

MEF2D

2-1715-004

chr1:
156468047-156468047

A

ACG

intronic

De novo

-

Yuen2017 G

MEF2D

1-0863-003

chr1:
156493234-156493234

G

A

intergenic

De novo

-

Yuen2017 G

MEF2D

DEASD_0089_001

chr1:
156452417-156452417

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_001271629
NM_005920

c.C70T
c.C70T

p.R24W
p.R24W

20.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

MEF2D

Iowa_125_2_a.2.1

chr1:
156449464-156449464

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271629
NM_005920

c.C521T
c.C521T

p.T174M
p.T174M

24.8

-

Wang2020 T

MEF2D

Iowa_125_1_a.2.1

chr1:
156449464-156449464

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271629
NM_005920

c.C521T
c.C521T

p.T174M
p.T174M

24.8

-

Wang2020 T

MEF2D

14446.p1

chr1:
156452416-156452416

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001271629
NM_005920

c.G71A
c.G71A

p.R24Q
p.R24Q

35.0

-

Krupp2017 E

MEF2D

ACGC_HEN429.p1

chr1:
156437799-156437799

G

A

exonic

Maternal

nonsynonymous SNV

NM_001271629
NM_005920

c.C1519T
c.C1540T

p.R507W
p.R514W

16.66

8.552E-6

Wang2020 T

MEF2D

1-0203-004

chr1:
156457600-156457600

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MEF2D

AU2427301

chr1:
156435723-156435723

C

T

UTR3

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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