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Results for "MYH6"
Variant Events: 17
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
MYH6
14202.p1
chr14:
23851809-23851809
G
A
intronic
De novo
-
-
Satterstrom2020
E
Trost2022
G
MYH6
2-0305-003
chr14:
23862796-23862796
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
MYH6
SP0142891
chr14:
23858034-23858034
T
G
intronic
De novo
-
-
Trost2022
G
MYH6
SJD_49
chr14:
23869560-23869560
C
G
exonic
Paternal
nonsynonymous SNV
NM_002471
c.G1486C
p.V496L
22.8
8.237E-6
Toma2013
E
MYH6
SP0206065
chr14:
23858271-23858271
A
C
intronic
De novo
-
3.0E-4
Trost2022
G
MYH6
DEASD_0203_001
chr14:
23856995-23856995
G
T
exonic
De novo
synonymous SNV
NM_002471
c.C4497A
p.T1499T
-
8.239E-6
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
MYH6
EGAN00001101089
chr14:
23862683-23862683
G
A
exonic
De novo
synonymous SNV
NM_002471
c.C2973T
p.I991I
-
2.471E-5
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
MYH6
1-0200-004
chr14:
23852600-23852600
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
MYH6
GEA243
chr14:
23853862-23853862
T
C
exonic
De novo
nonsynonymous SNV
NM_002471
c.A5354G
p.K1785R
18.26
-
Fu2022
E
MYH6
11725-1
chr14:
23866026-23866026
C
A
exonic
De novo
nonsynonymous SNV
NM_002471
c.G2169T
p.R723S
16.19
-
Fu2022
E
MYH6
mAGRE2477
chr14:
23870187-23870187
C
G
splicing
De novo
splicing
12.71
-
Cirnigliaro2023
G
MYH6
111305
chr14:
23855204-23855204
C
T
exonic
nonsynonymous SNV
NM_002471
c.G5096A
p.R1699Q
34.0
1.649E-5
Woodbury-Smith2022
E
MYH6
Wang2023:786
chr14:
23876273-23876273
G
A
exonic
De novo
nonsynonymous SNV
NM_002471
c.C160T
p.R54W
13.17
2.471E-5
Wang2023
E
MYH6
iHART2477
chr14:
23870187-23870187
C
G
splicing
De novo
splicing
12.71
-
Ruzzo2019
G
MYH6
2-0256-003
chr14:
23859357-23859357
C
T
exonic
De novo
nonsynonymous SNV
NM_002471
c.G3641A
p.R1214Q
32.0
8.294E-6
Yuen2015
G
Zhou2022
G
E
MYH6
SP0110129
chr14:
23873951-23873951
C
T
exonic
De novo
nonsynonymous SNV
NM_002471
c.G611A
p.R204H
18.46
1.0E-4
Fu2022
E
Trost2022
G
Zhou2022
G
E
MYH6
SP0140612
chr14:
23874845-23874845
C
T
exonic
De novo
stopgain
NM_002471
c.G336A
p.W112X
36.0
-
Fu2022
E
Trost2022
G
Zhou2022
G
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 notes
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