or
or
Exact

Results for "MYO3A"

Variant Events: 22

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
MYO3A     AU3052302chr10:
26445771-26445771
CTintronicDe novo--Yuen2017 G
MYO3A     AU057405chr10:
26389458-26389458
TCintronicDe novo--Yuen2017 G
MYO3A     iHART1520chr10:
26500881-26500881
CTexonicMaternalstopgainNM_017433c.C4840Tp.Q1614X40.02.0E-4Ruzzo2019 G
MYO3A     iHART2116chr10:
26491987-26491987
CTexonicMaternalstopgainNM_017433c.C4681Tp.R1561X44.01.0E-4Ruzzo2019 G
MYO3A     Cukier2014:17122chr10:
26463052-26463052
CAexonicUnknownnonsynonymous SNVNM_017433c.C3859Ap.P1287T0.8290.0099Cukier2014 E
MYO3A     1-0354-003chr10:
26338832-26338832
TCintronicDe novo--Yuen2017 G
MYO3A     2-1722-003chr10:
26232879-26232879
GAintronicDe novo--Yuen2017 G
MYO3A     1-0632-003chr10:
26291555-26291555
GAintronicDe novo--Yuen2017 G
MYO3A     12070.p1chr10:
26455055-26455055
CTexonicMosaicnonsynonymous SNVNM_017433c.C3059Tp.A1020V14.37-Dou2017 E
Krupp2017 E
MYO3A     2-1241-003chr10:
26461498-26461498
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3A     1-0683-003chr10:
26291555-26291555
GAintronicDe novo--Yuen2017 G
MYO3A     AU4145301chr10:
26406414-26406414
AGintronicDe novo--Yuen2017 G
MYO3A     1-0541-004chr10:
26291555-26291555
GAintronicDe novo--Yuen2017 G
MYO3A     iHART3290chr10:
26434464-26434464
GGTsplicingPaternalsplicing--Ruzzo2019 G
MYO3A     iHART2500chr10:
26355941-26355941
CTexonicMaternalstopgainNM_017433c.C991Tp.R331X18.251.648E-5Ruzzo2019 G
MYO3A     1-0104-004chr10:
26298236-26298236
GGCAintronicDe novo--Yuen2017 G
MYO3A     iHART2467chr10:
26457683-26457683
CTexonicPaternalstopgainNM_017433c.C3154Tp.R1052X41.04.953E-5Ruzzo2019 G
MYO3A     iHART2868chr10:
26457675-26457676
ATAexonicMaternalframeshift deletionNM_017433c.3147delTp.N1049fs-8.256E-6Ruzzo2019 G
MYO3A     1-0683-004chr10:
26291555-26291555
GAintronicDe novo--Yuen2017 G
MYO3A     2-1131-003chr10:
26405236-26405236
TCintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3A     iHART2502chr10:
26355941-26355941
CTexonicMaternalstopgainNM_017433c.C991Tp.R331X18.251.648E-5Ruzzo2019 G
MYO3A     iHART2501chr10:
26355941-26355941
CTexonicMaternalstopgainNM_017433c.C991Tp.R331X18.251.648E-5Ruzzo2019 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