Variant Results

or

or

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

2-1167-003

chr10:
95210381-95210381

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MYOF

1-0112-004

chr10:
95186781-95186781

A

T

intronic

De novo

-

-

Yuen2017 G

MYOF

1-0190-003

chr10:
95208274-95208274

A

G

intronic

De novo

-

-

Yuen2017 G

MYOF

1-1004-003

chr10:
95110028-95110028

G

A

intronic

De novo

-

-

Yuen2017 G

MYOF

1-0755-003

chr10:
95130398-95130398

A

T

intronic

De novo

-

-

Yuen2017 G

MYOF

7-0100-003

chr10:
95123444-95123444

A

T

intronic

De novo

-

-

Yuen2017 G

MYOF

AU071204

chr10:
95214650-95214650

C

T

intronic

De novo

-

-

Yuen2017 G

MYOF

iHART1695

chr10:
95107529-95107540

TTGGGCAAGAAC

T

exonic

Paternal

frameshift deletion

NM_133337
NM_013451

c.4045_4054del
c.4084_4093del

p.F1349fs
p.F1362fs

-

Ruzzo2019 G

MYOF

SP0030187

chr10:
95116514-95116514

A

G

exonic

De novo

nonsynonymous SNV

NM_133337
NM_013451

c.T3173C
c.T3212C

p.F1058S
p.F1071S

23.9

-

Feliciano2019 E

MYOF

152839

chr10:
95140944-95140944

C

T

intronic

De novo

-

Satterstrom2020 E

MYOF

iHART1309

chr10:
95111307-95111307

G

A

exonic

Maternal

stopgain

NM_133337
NM_013451

c.C3646T
c.C3685T

p.R1216X
p.R1229X

44.0

Ruzzo2019 G

MYOF

G01-GEA-65-HI

chr10:
95083024-95083024

T

G

intronic

De novo

-

Satterstrom2020 E

MYOF

AU3768302

chr10:
95149592-95149592

C

T

intronic

De novo

-

-

Yuen2017 G

MYOF

08C77878

chr10:
95079797-95079797

G

A

intronic

De novo

-

-

Satterstrom2020 E

MYOF

03C16507A

chr10:
95079735-95079735

G

C

exonic

De novo

nonsynonymous SNV

NM_133337
NM_013451

c.C5453G
c.C5492G

p.T1818R
p.T1831R

26.8

-

Neale2012 E

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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