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Results for "MEF2C"

Variant Events: 54

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     3-0456-000chr5:
88107432-88107432
CTintronicDe novo--Yuen2017 G
MEF2C     ACGC_GX0403.p1chr5:
88024430-88024441
CTACTCAGAGAGCexonicDe novoframeshift deletionNM_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.p1chr5:
88018537-88018537
GCexonicMosaicnonsynonymous SNVNM_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     B0806chr5:
88100551-88100551
CTexonicDe novononsynonymous SNVNM_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.p1chr5:
88044920-88044920
CAexonicDe novostopgainNM_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     3-0078-000chr5:
88174215-88174215
CTintronicDe novo--Trost2022 G
MEF2C     10C112390chr5:
88100432-88100432
TCexonicDe novo, Unknownnonsynonymous SNVNM_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
Trost2022 G
Wang2020 T
Zhou2022 GE
MEF2C     AU2310301chr5:
88178451-88178451
CTintronicDe novo--Trost2022 G
MEF2C     ACGC_GX0422.p1chr5:
88027558-88027559
CGCexonicDe novoframeshift deletionNM_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     MSSNG00088-003chr5:
88158159-88158163
ATGTTAintronicDe novo--Trost2022 G
MEF2C     1-0611-005chr5:
88160310-88160310
AGintronicDe novo--Trost2022 G
MEF2C     2-1297-003chr5:
88029691-88029691
TCintronicDe novo--Trost2022 G
Yuen2017 G
MEF2C     AU065903chr5:
88027590-88027590
GAexonicDe novostopgainNM_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     2-1442-003chr5:
88146092-88146092
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MEF2C     AU072905chr5:
88146926-88146926
TAintronicDe novo--Trost2022 G
Yuen2017 G
MEF2C     Mahjani2021:44chr5:
88119580-88119580
GAexonicnonsynonymous SNVNM_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     AU4129303chr5:
88153269-88153269
GTintronicDe novo--Trost2022 G
Yuen2017 G
MEF2C     ACGC_HN0174.p1chr5:
88100564-88100564
CTexonicMaternalnonsynonymous SNVNM_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
34.08.247E-6Wang2020 T
MEF2C     2-1567-004chr5:
88164062-88164062
TCintronicDe novo--Trost2022 G
Yuen2017 G
MEF2C     2-0110-003chr5:
88057155-88057155
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MEF2C     SP0017349chr5:
88119551-88119555
CCTGTCexonicDe novoframeshift deletionNM_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
Zhou2022 GE
MEF2C     Chen2021:63chr5:
88100551-88100551
CTexonicDe novononsynonymous SNVNM_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     2-1567-003chr5:
88164062-88164062
TCintronicDe novo--Trost2022 G
Yuen2017 G
MEF2C     SP0242864chr5:
88025165-88025165
CAsplicingDe novosplicing17.38-Trost2022 G
Zhou2022 GE
MEF2C     3-0456-000Bchr5:
88107432-88107432
CTintronicDe novo--Yuen2017 G
MEF2C     SP0203733chr5:
88018711-88018711
ATexonicnonsynonymous SNVNM_001193348
NM_001308002
NM_001131005
NM_001193350
NM_002397
NM_001193347
c.T964A
c.T1108A
c.T1102A
c.T1132A
c.T1132A
c.T1162A
p.S322T
p.S370T
p.S368T
p.S378T
p.S378T
p.S388T
6.065-Zhou2022 GE
MEF2C     AGRE_07C71025chr5:
88024446-88024451
CTAGATCsplicingUnknownsplicing--Wang2020 T
MEF2C     SP0245361chr5:
88030394-88030394
TGintronicDe novo--Trost2022 G
MEF2C     SP0094752chr5:
88030395-88030395
TGintronicDe novo--Trost2022 G
MEF2C     SP0164334chr5:
88030394-88030394
TGintronicDe novo--Trost2022 G
MEF2C     SP0171410chr5:
88030394-88030394
TGintronicDe novo--Trost2022 G
MEF2C     SP0055262chr5:
88030378-88030378
GTintronicDe novo--Trost2022 G
MEF2C     MT_178.4chr5:
88053728-88053728
GAintronicDe novo--Trost2022 G
MEF2C     5113_201_childchr5:
88100432-88100432
TCexonicDe novononsynonymous SNVNM_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     1-0260-004chr5:
88064424-88064424
CAintronicDe novo--Trost2022 G
MEF2C     SP0242003chr5:
88039473-88039473
ACintronicDe novo--Trost2022 G
MEF2C     SP0108393chr5:
88039477-88039477
AGintronicDe novo--Trost2022 G
MEF2C     SP0152433chr5:
88038213-88038213
CTintronicDe novo--Trost2022 G
MEF2C     SP0049886chr5:
88038870-88038870
GAintronicDe novo--Trost2022 G
MEF2C     SP0093652chr5:
88030395-88030395
TGintronicDe novo--Trost2022 G
MEF2C     SP0215355chr5:
88031281-88031281
TAintronicDe novo--Trost2022 G
MEF2C     MSSNG00040-003chr5:
88139834-88139834
GAintronicDe novo--Trost2022 G
MEF2C     5-5069-003chr5:
88140507-88140507
TCintronicDe novo--Trost2022 G
MEF2C     MSSNG00063-003chr5:
88112662-88112665
CATTCintronicDe novo--Trost2022 G
MEF2C     SJD_49.3chr5:
88113672-88113672
AGintronicDe novo--Trost2022 G
MEF2C     SF0015766.p1chr5:
88100615-88100615
TCexonicnonsynonymous SNVNM_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     SP0015766chr5:
88100615-88100615
TCexonicDe novononsynonymous SNVNM_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
Zhou2022 GE
MEF2C     SMHC01432s000chr5:
88119562-88119562
CTexonicDe novononsynonymous SNVNM_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     MSSNG00369-004chr5:
88090371-88090371
GAintronicDe novo--Trost2022 G
MEF2C     3-0484-000chr5:
88107699-88107699
CGintronicDe novo--Trost2022 G
MEF2C     1-0845-003chr5:
88075247-88075247
TGintronicDe novo--Trost2022 G
MEF2C     SF0065777.p1chr5:
88119563-88119563
GAexonicnonsynonymous SNVNM_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     SP0065777chr5:
88119563-88119563
GAexonicDe novononsynonymous SNVNM_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
Trost2022 G
Zhou2022 GE
MEF2C     REACH000443chr5:
88078290-88078290
ATintronicDe novo--Trost2022 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 notesView
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