Variant Results

or

Results for "MYOM2"

Variant Events: 49

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

MYOM2

2-0036-003

chr8:
2032818-2032818

A

G

intronic

De novo

-

Yuen2016 G

MYOM2

1-0028-003

chr8:
2355363-2355363

C

G

intergenic

De novo

-

Yuen2017 G

MYOM2

AU4347301

chr8:
2249367-2249367

A

G

intergenic

De novo

-

Yuen2017 G

MYOM2

1-0533-003

chr8:
2384943-2384943

G

A

intergenic

De novo

-

Yuen2017 G

MYOM2

2-0300-003

chr8:
2017596-2017596

C

T

exonic

De novo

nonsynonymous SNV

NM_003970

c.C773T

p.S258L

8.342

4.118E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

MYOM2

3-0169-000

chr8:
2315537-2315537

T

C

intergenic

De novo

-

Yuen2016 G

MYOM2

AU072905

chr8:
2193433-2193433

G

C

intergenic

De novo

-

Yuen2017 G

MYOM2

1-0914-003

chr8:
2031957-2031957

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYOM2

1-0107-003

chr8:
2032305-2032305

G

A

intronic

De novo

-

Yuen2017 G

MYOM2

SP0000124

chr8:
2040086-2040086

G

A

intronic

De novo

-

Fu2022 E

MYOM2

04C35994

chr8:
2017596-2017596

C

T

exonic

De novo

nonsynonymous SNV

NM_003970

c.C773T

p.S258L

8.342

4.118E-5

Fu2022 E

MYOM2

2-0158-003

chr8:
2345737-2345737

C

G

intergenic

De novo

-

Yuen2017 G

MYOM2

5-5030-003

chr8:
2039426-2039426

C

T

intronic

De novo

-

Trost2022 G

MYOM2

7-0462-003

chr8:
2072906-2072906

G

T

intronic

De novo

-

Trost2022 G

MYOM2

AU2462302

chr8:
2034146-2034146

C

T

intronic

De novo

-

Trost2022 G

MYOM2

MSSNG00386-003

chr8:
2034208-2034208

C

T

intronic

De novo

-

Trost2022 G

MYOM2

AU4465303

chr8:
2130300-2130300

C

T

intergenic

De novo

-

Yuen2017 G

MYOM2

5-5129-003

chr8:
2032839-2032839

A

G

intronic

De novo

-

Trost2022 G

MYOM2

5-0001-003

chr8:
2033643-2033643

C

T

intronic

De novo

-

Trost2022 G

MYOM2

2-0070-004

chr8:
2007227-2007227

A

ACACACACACAC

intronic

De novo

-

Trost2022 G

MYOM2

1-0046-003

chr8:
2212370-2212370

G

C

intergenic

De novo

-

Yuen2017 G

MYOM2

SP0065189

chr8:
2033425-2033425

G

C

exonic

De novo

nonsynonymous SNV

NM_003970

c.G1547C

p.G516A

10.02

-

Trost2022 G
Zhou2022 GE

MYOM2

2-0016-003

chr8:
2032818-2032818

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYOM2

SP0182029

chr8:
2090342-2090342

T

A

intronic

De novo

-

Trost2022 G

MYOM2

SP0143857

chr8:
2033346-2033346

G

A

intronic

De novo

-

5.081E-5

Fu2022 E
Trost2022 G

MYOM2

SP0060807

chr8:
2037937-2037937

G

C

exonic

De novo

nonsynonymous SNV

NM_003970

c.G1751C

p.R584P

19.86

-

Fu2022 E

MYOM2

SP0052138

chr8:
2053954-2053959

CCATAT

C

intronic

De novo

-

Fu2022 E

MYOM2

SP0051370

chr8:
2033563-2033563

A

ATGGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCCACTGTCGTGATCTCTGCG

intronic

De novo

-

Fu2022 E

MYOM2

AU3913303

chr8:
2197933-2197933

C

T

intergenic

De novo

-

Yuen2017 G

MYOM2

SP0079126

chr8:
2054091-2054091

T

A

exonic

De novo

nonsynonymous SNV

NM_003970

c.T2794A

p.C932S

12.48

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MYOM2

SP0065189

chr8:
2033433-2033433

G

A

exonic

De novo

nonsynonymous SNV

NM_003970

c.G1555A

p.A519T

20.4

1.651E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MYOM2

1-0490-003

chr8:
2258647-2258647

G

A

intergenic

De novo

-

Yuen2017 G

MYOM2

2-1501-003

chr8:
2262152-2262152

C

G

intergenic

De novo

-

Yuen2017 G

MYOM2

1-0490-003

chr8:
2257854-2257854

G

C

intergenic

De novo

-

Yuen2017 G

MYOM2

MCD-020-4

chr8:
2005820-2005820

G

A

exonic

Paternal

nonsynonymous SNV

NM_003970

c.G482A

p.R161Q

33.0

2.48E-5

Tuncay2023 G

MYOM2

MCD-020-4

chr8:
2088749-2088749

A

G

exonic

Maternal

nonsynonymous SNV

NM_003970

c.A3904G

p.T1302A

10.44

4.0E-4

Tuncay2023 G

MYOM2

SP0134192

chr8:
2054001-2054001

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G

MYOM2

1-0490-003

chr8:
2258842-2258842

C

G

intergenic

De novo

-

Yuen2017 G

MYOM2

2-1322-003

chr8:
2296877-2296877

G

T

intergenic

De novo

-

Yuen2017 G

MYOM2

3-0437-000

chr8:
2203330-2203330

G

A

intergenic

De novo

-

Yuen2016 G

MYOM2

DEASD_1046_001

chr8:
2044149-2044149

G

A

exonic

De novo

nonsynonymous SNV

NM_003970

c.G2188A

p.G730S

32.0

7.414E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYOM2

AU4067301

chr8:
2250914-2250917

TTCT

TT

intergenic

De novo

-

Yuen2017 G

MYOM2

AU054303

chr8:
2249824-2249824

T

G

intergenic

De novo

-

Yuen2017 G

MYOM2

2-1562-003

chr8:
2080196-2080196

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYOM2

AU02304

chr8:
2027642-2027642

C

T

exonic

De novo

synonymous SNV

NM_003970

c.C1464T

p.A488A

-

1.647E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYOM2

Cukier2014:7663

chr8:
2050520-2050520

G

A

exonic

Unknown

nonsynonymous SNV

NM_003970

c.G2683A

p.V895M

14.64

0.0017

Cukier2014 E

MYOM2

1-0120-003

chr8:
2339770-2339776

CGTGTGT

CGTGT

intergenic

De novo

-

Yuen2017 G

MYOM2

2-1329-003

chr8:
2155264-2155264

G

A

intergenic

De novo

-

Yuen2017 G

MYOM2

2-1365-003

chr8:
2249891-2249891

T

C

intergenic

De novo

-

Yuen2017 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 notes	View
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