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Results for "MYH8"

Variant Events: 7

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
MYH8     Cukier2014:7590chr17:
10298599-10298599
CTexonicUnknownnonsynonymous SNVNM_002472c.G4813Ap.D1605N31.00.0019Cukier2014 E
MYH8     iHART1034chr17:
10318997-10318997
CTsplicingPaternalsplicing20.21.0E-4Ruzzo2019 G
MYH8     iHART2872chr17:
10317508-10317508
CTsplicingMaternalsplicing21.78.237E-6Ruzzo2019 G
MYH8     Cukier2014:7590chr17:
10298628-10298628
CGexonicUnknownnonsynonymous SNVNM_002472c.G4784Cp.R1595T23.44.0E-4Cukier2014 E
MYH8     iHART1652chr17:
10301762-10301763
TGTexonicMaternalframeshift deletionNM_002472c.4176delCp.A1392fs--Ruzzo2019 G
MYH8     iHART2873chr17:
10317508-10317508
CTsplicingMaternalsplicing21.78.237E-6Ruzzo2019 G
MYH8     iHART1734chr17:
10307757-10307757
GAexonicPaternalstopgainNM_002472c.C2578Tp.Q860X32.02.471E-5Ruzzo2019 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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