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Results for "MYOF"

Variant Events: 15

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--Yuen2016 G
Yuen2017 G
MYOF     1-0112-004chr10:
95186781-95186781
ATintronicDe novo--Yuen2017 G
MYOF     1-0190-003chr10:
95208274-95208274
AGintronicDe novo--Yuen2017 G
MYOF     1-1004-003chr10:
95110028-95110028
GAintronicDe novo--Yuen2017 G
MYOF     1-0755-003chr10:
95130398-95130398
ATintronicDe novo--Yuen2017 G
MYOF     7-0100-003chr10:
95123444-95123444
ATintronicDe novo--Yuen2017 G
MYOF     AU071204chr10:
95214650-95214650
CTintronicDe novo--Yuen2017 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     SP0030187chr10:
95116514-95116514
AGexonicDe novononsynonymous SNVNM_133337
NM_013451
c.T3173C
c.T3212C
p.F1058S
p.F1071S
23.9-Feliciano2019 E
MYOF     152839chr10:
95140944-95140944
CTintronicDe novo-8.402E-6Satterstrom2020 E
MYOF     iHART1309chr10:
95111307-95111307
GAexonicMaternalstopgainNM_133337
NM_013451
c.C3646T
c.C3685T
p.R1216X
p.R1229X
44.02.486E-5Ruzzo2019 G
MYOF     G01-GEA-65-HIchr10:
95083024-95083024
TGintronicDe novo-2.0E-4Satterstrom2020 E
MYOF     AU3768302chr10:
95149592-95149592
CTintronicDe novo--Yuen2017 G
MYOF     08C77878chr10:
95079797-95079797
GAintronicDe novo--Satterstrom2020 E
MYOF     03C16507Achr10:
95079735-95079735
GCexonicDe novononsynonymous SNVNM_133337
NM_013451
c.C5453G
c.C5492G
p.T1818R
p.T1831R
26.8-Neale2012 E
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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