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Results for "MYH10"

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
MYH10     13000.p1chr17:
8424204-8424205
GAGexonicDe novoframeshift deletionNM_005964
NM_001256095
NM_001256012
c.2171delT
c.2198delT
c.2264delT
p.F724fs
p.F733fs
p.F755fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
MYH10     2-1339-003chr17:
8576686-8576686
GTintergenicDe novo--Yuen2017 G
MYH10     2-1357-003chr17:
8398199-8398199
GAintronicDe novo--Yuen2017 G
MYH10     DEASD_0259_001chr17:
8393903-8393903
CTintronicDe novo-4.182E-5Kosmicki2017 E
Satterstrom2020 E
MYH10     AU003405chr17:
8453196-8453196
CTintronicDe novo--Yuen2017 G
MYH10     2-1409-003chr17:
8530577-8530577
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MYH10     AU074503chr17:
8423368-8423368
CTintronicDe novo--Yuen2017 G
MYH10     SSC00932chr17:
8526323-8526323
GAexonicDe novononsynonymous SNVNM_001256012
NM_001256095
NM_005964
c.C242T
c.C242T
c.C242T
p.P81L
p.P81L
p.P81L
26.5-Lim2017 E
MYH10     1-0534-006chr17:
8578596-8578596
CTintergenicDe novo--Yuen2017 G
MYH10     2-0272-004chr17:
8562245-8562245
CTintergenicDe novo--Yuen2017 G
MYH10     2-0306-004chr17:
8376623-8376629
GCCCCCCGCCCdownstreamDe novo--Yuen2017 G
MYH10     Lim2017:4902chr17:
8457299-8457299
TCexonicDe novononsynonymous SNVNM_005964
NM_001256012
NM_001256095
c.A764G
c.A794G
c.A791G
p.Y255C
p.Y265C
p.Y264C
21.8-Lim2017 E
MYH10     3-0428-000chr17:
8412498-8412498
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MYH10     2-0306-003chr17:
8376623-8376626
GCCCGdownstreamDe novo--Yuen2016 G
MYH10     13742.p1chr17:
8457299-8457299
TCexonicDe novononsynonymous SNVNM_005964
NM_001256012
NM_001256095
c.A764G
c.A794G
c.A791G
p.Y255C
p.Y265C
p.Y264C
21.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
MYH10     11516.p1chr17:
8526323-8526323
GAexonicDe novononsynonymous SNVNM_001256012
NM_001256095
NM_005964
c.C242T
c.C242T
c.C242T
p.P81L
p.P81L
p.P81L
26.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MYH10     2-1114-003chr17:
8475903-8475903
AGintronicDe novo--Yuen2017 G
MYH10     AU2022302chr17:
8379739-8379739
CTintronicDe novo--Yuen2017 G
MYH10     11000.p1chr17:
8393904-8393904
GAintronicDe novo-2.51E-5Satterstrom2020 E
MYH10     AU061104chr17:
8543822-8543822
ACintergenicDe novo--Yuen2017 G
MYH10     1-0019-004chr17:
8414449-8414449
TTACintronicDe novo--Yuen2017 G
MYH10     AU3782303chr17:
8423442-8423442
CAintronicDe 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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