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Results for "MYH11"

Variant Events: 24

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     1-0210-004chr16:
15919137-15919137
GAintronicDe novo--Yuen2017 G
MYH11     MR_593chr16:
15835509-15835509
GAexonicDe novosynonymous SNVNM_002474
NM_022844
NM_001040113
NM_001040114
c.C2670T
c.C2670T
c.C2691T
c.C2691T
p.N890N
p.N890N
p.N897N
p.N897N
--Satterstrom2020 E
MYH11     1-0054-003chr16:
15939428-15939428
CTintronicDe novo--Yuen2017 G
MYH11     PN400115chr16:
15872688-15872688
GAexonicUnknownnonsynonymous SNVNM_002474
NM_022844
NM_001040113
NM_001040114
c.C739T
c.C739T
c.C760T
c.C760T
p.R247C
p.R247C
p.R254C
p.R254C
23.60.0019Leblond2019 E
MYH11     10C108746chr16:
15865403-15865403
CTintronicDe novo--Satterstrom2020 E
MYH11     2-1163-003chr16:
15834994-15834994
TCintronicDe novo--Yuen2016 G
Yuen2017 G
MYH11     3-0447-000chr16:
15873365-15873365
CTintronicDe novo--Yuen2016 G
MYH11     2-0182-003chr16:
15931291-15931291
GAintronicDe novo--Yuen2017 G
MYH11     09C82110chr16:
15844149-15844149
GAexonicDe novononsynonymous SNVNM_002474
NM_022844
NM_001040113
NM_001040114
c.C1904T
c.C1904T
c.C1925T
c.C1925T
p.T635M
p.T635M
p.T642M
p.T642M
20.53.995E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MYH11     062-03-100282chr16:
15850283-15850283
GAexonicDe novononsynonymous SNVNM_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-Satterstrom2020 E
MYH11     CC982.201chr16:
15851859-15851859
TCsplicingDe novosplicing19.12-Lim2017 E
Satterstrom2020 E
MYH11     AU0540301chr16:
15863046-15863046
GAintronicDe novo--Yuen2017 G
MYH11     PN400215chr16:
15872688-15872688
GAexonicUnknownnonsynonymous SNVNM_002474
NM_022844
NM_001040113
NM_001040114
c.C739T
c.C739T
c.C760T
c.C760T
p.R247C
p.R247C
p.R254C
p.R254C
23.60.0019Leblond2019 E
MYH11     2-1452-003chr16:
15928150-15928150
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MYH11     PN400256chr16:
15872688-15872688
GAexonicUnknownnonsynonymous SNVNM_002474
NM_022844
NM_001040113
NM_001040114
c.C739T
c.C739T
c.C760T
c.C760T
p.R247C
p.R247C
p.R254C
p.R254C
23.60.0019Leblond2019 E
MYH11     12306.p1chr16:
15812190-15812190
GAexonicDe novosynonymous SNVNM_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-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MYH11     2-0238-004chr16:
15932022-15932022
ACexonicDe novononsynonymous SNVNM_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     AU4103301chr16:
15807258-15807258
CGintronicDe novo--Yuen2017 G
MYH11     2-1322-004chr16:
15798579-15798579
GGCintronicDe novo--Yuen2017 G
MYH11     AU1668302chr16:
15799614-15799614
GAintronicDe novo--Yuen2017 G
MYH11     AU4197302chr16:
15936041-15936041
CAintronicDe novo--Yuen2017 G
MYH11     2-1355-003chr16:
15865403-15865403
CTintronicDe novo--Yuen2017 G
MYH11     AU2293302chr16:
15858098-15858098
GAintronicDe novo--Yuen2017 G
MYH11     PN400281chr16:
15872688-15872688
GAexonicUnknownnonsynonymous SNVNM_002474
NM_022844
NM_001040113
NM_001040114
c.C739T
c.C739T
c.C760T
c.C760T
p.R247C
p.R247C
p.R254C
p.R254C
23.60.0019Leblond2019 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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