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Results for "MYH7"

Variant Events: 15

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
MYH7     AU004403chr14:
23884501-23884501
CTintronicDe novo--Trost2022 G
MYH7     1-0345-004chr14:
23929563-23929563
CAintergenicDe novo--Yuen2017 G
MYH7     iHART1972chr14:
23897831-23897831
GAexonicMaternalstopgainNM_000257c.C1456Tp.Q486X40.0-Ruzzo2019 G
MYH7     2-1763-003chr14:
23904998-23904998
CAupstreamDe novo--Trost2022 G
MYH7     mAGRE1976chr14:
23897831-23897831
GAexonicMaternalstopgainNM_000257c.C1456Tp.Q486X40.0-Cirnigliaro2023 G
MYH7     mAGRE1972chr14:
23897831-23897831
GAexonicMaternalstopgainNM_000257c.C1456Tp.Q486X40.0-Cirnigliaro2023 G
MYH7     7-0352-003chr14:
23898515-23898515
CTexonicDe novononsynonymous SNVNM_000257c.G1180Ap.D394N17.97-Trost2022 G
Zhou2022 GE
MYH7     SP0099185chr14:
23895002-23895002
TAexonicnonsynonymous SNVNM_000257c.A2188Tp.I730F29.8-Zhou2022 GE
MYH7     SP0050021chr14:
23900998-23900998
CTexonicnonsynonymous SNVNM_000257c.G611Ap.R204H17.43-Zhou2022 GE
MYH7     MT_155.3chr14:
23900821-23900821
GAexonicDe novosynonymous SNVNM_000257c.C705Tp.T235T-8.236E-5Trost2022 G
Zhou2022 GE
MYH7     SP0048783chr14:
23887577-23887577
CTexonicsynonymous SNVNM_000257c.G4011Ap.R1337R--Zhou2022 GE
MYH7     SP0111273chr14:
23884208-23884208
TTAexonicframeshift insertionNM_000257c.5554dupTp.Y1852fs--Zhou2022 GE
MYH7     SP0070866chr14:
23901996-23901996
CTexonicsynonymous SNVNM_000257c.G354Ap.S118S-5.777E-5Zhou2022 GE
MYH7     iHART1976chr14:
23897831-23897831
GAexonicMaternalstopgainNM_000257c.C1456Tp.Q486X40.0-Ruzzo2019 G
MYH7     1-0835-003chr14:
23903641-23903641
GAintronicDe novo--Yuen2017 G
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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