Variant Results

or

Results for "MYH11"

Variant Events: 27

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

MYH11

1-0210-004

chr16:
15919137-15919137

G

A

intronic

De novo

-

Yuen2017 G

MYH11

838_17au

chr16:
15812485-15812485

C

T

intronic

De novo

-

Fu2022 E

MYH11

1-0054-003

chr16:
15939428-15939428

C

T

intronic

De novo

-

Yuen2017 G

MYH11

PN400115

chr16:
15872688-15872688

G

A

exonic

Unknown

nonsynonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C739T
c.C739T
c.C760T
c.C760T

p.R247C
p.R247C
p.R254C
p.R254C

23.6

0.0019

Leblond2019 E

MYH11

CC982_201

chr16:
15851859-15851859

T

C

splicing

De novo

splicing

19.12

-

Fu2022 E

MYH11

2-1163-003

chr16:
15834994-15834994

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MYH11

2-0182-003

chr16:
15931291-15931291

G

A

intronic

De novo

-

Yuen2017 G

MYH11

09C82110

chr16:
15844149-15844149

G

A

exonic

De novo

nonsynonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C1904T
c.C1904T
c.C1925T
c.C1925T

p.T635M
p.T635M
p.T642M
p.T642M

20.5

3.995E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

MYH11

062-03-100282

chr16:
15850283-15850283

G

A

exonic

De novo

nonsynonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C1664T
c.C1664T
c.C1685T
c.C1685T

p.T555M
p.T555M
p.T562M
p.T562M

14.59

-

Fu2022 E
Satterstrom2020 E

MYH11

AU0540301

chr16:
15863046-15863046

G

A

intronic

De novo

-

Yuen2017 G

MYH11

SP0000752

chr16:
15820726-15820726

A

G

exonic

De novo

synonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.T3837C
c.T3837C
c.T3858C
c.T3858C

p.N1279N
p.N1279N
p.N1286N
p.N1286N

-

2.476E-5

Fu2022 E

MYH11

12306.p1

chr16:
15812190-15812190

G

A

exonic

De novo

synonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C5277T
c.C5277T
c.C5298T
c.C5298T

p.V1759V
p.V1759V
p.V1766V
p.V1766V

-

1.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MYH11

2-1355-003

chr16:
15865403-15865403

C

T

intronic

De novo

-

Yuen2017 G

MYH11

PN400281

chr16:
15872688-15872688

G

A

exonic

Unknown

nonsynonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C739T
c.C739T
c.C760T
c.C760T

p.R247C
p.R247C
p.R254C
p.R254C

23.6

0.0019

Leblond2019 E

MYH11

MR_593

chr16:
15835509-15835509

G

A

exonic

De novo

synonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C2670T
c.C2670T
c.C2691T
c.C2691T

p.N890N
p.N890N
p.N897N
p.N897N

-

Fu2022 E
Satterstrom2020 E

MYH11

10C108746

chr16:
15865403-15865403

C

T

intronic

De novo

-

Satterstrom2020 E

MYH11

3-0447-000

chr16:
15873365-15873365

C

T

intronic

De novo

-

Yuen2016 G

MYH11

CC982.201

chr16:
15851859-15851859

T

C

splicing

De novo

splicing

19.12

-

Lim2017 E
Satterstrom2020 E

MYH11

PN400215

chr16:
15872688-15872688

G

A

exonic

Unknown

nonsynonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C739T
c.C739T
c.C760T
c.C760T

p.R247C
p.R247C
p.R254C
p.R254C

23.6

0.0019

Leblond2019 E

MYH11

2-1452-003

chr16:
15928150-15928150

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MYH11

PN400256

chr16:
15872688-15872688

G

A

exonic

Unknown

nonsynonymous SNV

NM_002474
NM_022844
NM_001040113
NM_001040114

c.C739T
c.C739T
c.C760T
c.C760T

p.R247C
p.R247C
p.R254C
p.R254C

23.6

0.0019

Leblond2019 E

MYH11

2-0238-004

chr16:
15932022-15932022

A

C

exonic

De novo

nonsynonymous SNV

NM_001040113
NM_001040114
NM_002474
NM_022844

c.T88G
c.T88G
c.T88G
c.T88G

p.W30G
p.W30G
p.W30G
p.W30G

24.4

-

Yuen2015 G
Yuen2017 G

MYH11

AU4103301

chr16:
15807258-15807258

C

G

intronic

De novo

-

Yuen2017 G

MYH11

2-1322-004

chr16:
15798579-15798579

G

GC

intronic

De novo

-

Yuen2017 G

MYH11

AU1668302

chr16:
15799614-15799614

G

A

intronic

De novo

-

Yuen2017 G

MYH11

AU4197302

chr16:
15936041-15936041

C

A

intronic

De novo

-

Yuen2017 G

MYH11

AU2293302

chr16:
15858098-15858098

G

A

intronic

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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