or
or
Exact

Results for "MYH6"

Variant Events: 8

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     EGAN00001101089chr14:
23862683-23862683
GAexonicDe novosynonymous SNVNM_002471c.C2973Tp.I991I-2.471E-5Satterstrom2020 E
MYH6     14202.p1chr14:
23851809-23851809
GAintronicDe novo--Satterstrom2020 E
MYH6     1-0200-004chr14:
23852600-23852600
ACintronicDe novo--Yuen2017 G
MYH6     2-0305-003chr14:
23862796-23862796
CAintronicDe novo--Yuen2017 G
MYH6     SJD_49chr14:
23869560-23869560
CGexonicPaternalnonsynonymous SNVNM_002471c.G1486Cp.V496L22.88.237E-6Toma2013 E
MYH6     DEASD_0203_001chr14:
23856995-23856995
GTexonicDe novosynonymous SNVNM_002471c.C4497Ap.T1499T-8.239E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MYH6     iHART2477chr14:
23870187-23870187
CGsplicingDe novosplicing12.71-Ruzzo2019 G
MYH6     2-0256-003chr14:
23859357-23859357
CTexonicDe novononsynonymous SNVNM_002471c.G3641Ap.R1214Q32.08.294E-6Yuen2015 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 notesView
More