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Results for "MYOF"

Variant Events: 42

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
MYOF     2-1167-003chr10:
95210381-95210381
GCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MYOF     MSSNG00041-003chr10:
95118355-95118355
AGintronicDe novo--Trost2022 G
MYOF     3-0459-000chr10:
95127777-95127777
GTintronicDe novo--Trost2022 G
MYOF     1027chr10:
95099704-95099704
TCintronicDe novo--Trost2022 G
MYOF     MSSNG00050-003chr10:
95118148-95118148
CTintronicDe novo--Trost2022 G
MYOF     2-1169-004chr10:
95088795-95088797
CTGTAGAintronicDe novo--Trost2022 G
MYOF     1027chr10:
95099702-95099702
GAintronicDe novo--Trost2022 G
MYOF     4-0111-003chr10:
95070049-95070049
CTintronicDe novo--Trost2022 G
MYOF     MT_167.3chr10:
95078244-95078244
GAintronicDe novo--Trost2022 G
MYOF     1-0112-004chr10:
95186781-95186781
ATintronicDe novo--Yuen2017 G
MYOF     MSSNG00021-004chr10:
95207268-95207268
CGintronicDe novo--Trost2022 G
MYOF     1-1004-003chr10:
95110028-95110028
GAintronicDe novo--Trost2022 G
Yuen2017 G
MYOF     2-1529-003chr10:
95212738-95212738
CTintronicDe novo--Trost2022 G
MYOF     4-0062-003chr10:
95157883-95157887
ACCCTTGACCintronicDe novo--Trost2022 G
MYOF     4-0062-003chr10:
95157891-95157891
TCintronicDe novo--Trost2022 G
MYOF     5-5025-003chr10:
95155195-95155195
AGintronicDe novo--Trost2022 G
MYOF     5-5025-004chr10:
95155195-95155195
AGintronicDe novo--Trost2022 G
MYOF     1-0755-003chr10:
95130398-95130398
ATintronicDe novo--Trost2022 G
Yuen2017 G
MYOF     SP0156988chr10:
95134496-95134496
GAintronicDe novo-8.51E-6Trost2022 G
MYOF     7-0100-003chr10:
95123444-95123444
ATintronicDe novo--Trost2022 G
Yuen2017 G
MYOF     MSSNG00410-003chr10:
95151993-95151993
TCintronicDe novo--Trost2022 G
MYOF     mAGRE4055chr10:
95126313-95126313
CTsplicingPaternalsplicing24.88.563E-6Cirnigliaro2023 G
MYOF     mAGRE5287chr10:
95121243-95121243
CTexonicMaternalstopgainNM_133337
NM_013451
c.G2901A
c.G2940A
p.W967X
p.W980X
40.08.281E-5Cirnigliaro2023 G
MYOF     mAGRE1309chr10:
95111307-95111307
GAexonicMaternalstopgainNM_133337
NM_013451
c.C3646T
c.C3685T
p.R1216X
p.R1229X
44.02.486E-5Cirnigliaro2023 G
MYOF     mAGRE1695chr10:
95107529-95107540
TTGGGCAAGAACTexonicPaternalframeshift deletionNM_133337
NM_013451
c.4045_4054del
c.4084_4093del
p.F1349fs
p.F1362fs
-1.669E-5Cirnigliaro2023 G
MYOF     iHART1695chr10:
95107529-95107540
TTGGGCAAGAACTexonicPaternalframeshift deletionNM_133337
NM_013451
c.4045_4054del
c.4084_4093del
p.F1349fs
p.F1362fs
-1.669E-5Ruzzo2019 G
MYOF     REACH000154chr10:
95241581-95241581
AGintronicDe novo--Trost2022 G
MYOF     iHART1309chr10:
95111307-95111307
GAexonicMaternalstopgainNM_133337
NM_013451
c.C3646T
c.C3685T
p.R1216X
p.R1229X
44.02.486E-5Ruzzo2019 G
MYOF     mAGRE4056chr10:
95126313-95126313
CTsplicingPaternalsplicing24.88.563E-6Cirnigliaro2023 G
MYOF     1-0190-003chr10:
95208274-95208274
AGintronicDe novo--Trost2022 G
Yuen2017 G
MYOF     AU071204chr10:
95214650-95214650
CTintronicDe novo--Yuen2017 G
MYOF     SP0030187chr10:
95116514-95116514
AGexonicDe novononsynonymous SNVNM_133337
NM_013451
c.T3173C
c.T3212C
p.F1058S
p.F1071S
23.9-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
MYOF     152839chr10:
95140944-95140944
CTintronicDe novo-8.402E-6Satterstrom2020 E
Trost2022 G
MYOF     G01-GEA-65-HIchr10:
95083024-95083024
TGintronicDe novo-2.0E-4Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYOF     AU3768302chr10:
95149592-95149592
CTintronicDe novo--Trost2022 G
Yuen2017 G
MYOF     SP0044781chr10:
95069798-95069798
GTexonicDe novosynonymous SNVNM_133337
NM_013451
c.C6087A
c.C6126A
p.A2029A
p.A2042A
--Fu2022 E
Trost2022 G
Zhou2022 GE
MYOF     SP0066876chr10:
95066762-95066762
GAintronic--Zhou2022 GE
MYOF     08C77878chr10:
95079797-95079797
GAintronicDe novo--Satterstrom2020 E
Trost2022 G
MYOF     SP0067396chr10:
95137131-95137131
TCexonicDe novononsynonymous SNVNM_133337
NM_013451
c.A2018G
c.A2057G
p.Q673R
p.Q686R
11.59-Fu2022 E
Trost2022 G
Zhou2022 GE
MYOF     SP0138440chr10:
95116653-95116653
TGintronicDe novo--Fu2022 E
MYOF     03C16507Achr10:
95079735-95079735
GCexonicDe novononsynonymous SNVNM_133337
NM_013451
c.C5453G
c.C5492G
p.T1818R
p.T1831R
26.8-Neale2012 E
MYOF     SP0144609chr10:
95095666-95095666
CTintronicDe novo-3.0E-4Fu2022 E
Trost2022 G
Source Variant Information

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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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