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Results for "MYH1"

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
MYH1     mAGRE5273chr17:
10419890-10419890
GAexonicMaternalstopgainNM_005963c.C70Tp.R24X28.54.0E-4Cirnigliaro2023 G
MYH1     mAGRE2988chr17:
10419890-10419890
GAexonicMaternalstopgainNM_005963c.C70Tp.R24X28.54.0E-4Cirnigliaro2023 G
MYH1     mAGRE4603chr17:
10417349-10417353
TCTTCTexonicPaternalframeshift deletionNM_005963c.622_625delp.E208fs-2.473E-5Cirnigliaro2023 G
MYH1     iHART2988chr17:
10419890-10419890
GAexonicMaternalstopgainNM_005963c.C70Tp.R24X28.54.0E-4Ruzzo2019 G
MYH1     2-0309-003chr17:
10406119-10406119
GGTexonicframeshift insertionNM_005963c.3046_3047insAp.A1016fs--Zhou2022 GE
MYH1     160446chr17:
10404047-10404047
CTexonicDe novononsynonymous SNVNM_005963c.G3761Ap.R1254H21.82.0E-4Fu2022 E
MYH1     SP0042704chr17:
10408192-10408192
CTexonicDe novononsynonymous SNVNM_005963c.G2626Ap.E876K15.55-Fu2022 E
Trost2022 G
Zhou2022 GE
MYH1     133343chr17:
10411812-10411812
CTexonicnonsynonymous SNVNM_005963c.G1765Ap.V589M26.94.943E-5Woodbury-Smith2022 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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