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Results for "MEF2D"

Variant Events: 13

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     74-0352chr1:
156488733-156488733
TCintergenicDe novo--Michaelson2012 G
MEF2D     1-0539-003chr1:
156474465-156474465
GAintergenicDe novo--Yuen2017 G
MEF2D     2-0122-003chr1:
156481992-156481992
GGCintergenicDe novo--Yuen2017 G
MEF2D     ACGC_GX0224.p1chr1:
156446845-156446845
CTexonicMaternalnonsynonymous SNVNM_001271629
NM_005920
c.G814A
c.G814A
p.V272I
p.V272I
35.0-Wang2020 T
MEF2D     2-1715-004chr1:
156468047-156468047
AACGintronicDe novo--Yuen2017 G
MEF2D     1-0863-003chr1:
156493234-156493234
GAintergenicDe novo--Yuen2017 G
MEF2D     DEASD_0089_001chr1:
156452417-156452417
GAexonicUnknown, De novononsynonymous SNVNM_001271629
NM_005920
c.C70T
c.C70T
p.R24W
p.R24W
20.2-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
MEF2D     Iowa_125_2_a.2.1chr1:
156449464-156449464
GAexonicUnknownnonsynonymous SNVNM_001271629
NM_005920
c.C521T
c.C521T
p.T174M
p.T174M
24.8-Wang2020 T
MEF2D     Iowa_125_1_a.2.1chr1:
156449464-156449464
GAexonicUnknownnonsynonymous SNVNM_001271629
NM_005920
c.C521T
c.C521T
p.T174M
p.T174M
24.8-Wang2020 T
MEF2D     14446.p1chr1:
156452416-156452416
CTexonicMosaicnonsynonymous SNVNM_001271629
NM_005920
c.G71A
c.G71A
p.R24Q
p.R24Q
35.0-Krupp2017 E
MEF2D     ACGC_HEN429.p1chr1:
156437799-156437799
GAexonicMaternalnonsynonymous SNVNM_001271629
NM_005920
c.C1519T
c.C1540T
p.R507W
p.R514W
16.668.552E-6Wang2020 T
MEF2D     1-0203-004chr1:
156457600-156457600
ATintronicDe novo--Yuen2017 G
MEF2D     AU2427301chr1:
156435723-156435723
CTUTR3De novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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 notesView
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