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Results for "MYOM2"

Variant Events: 29

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
MYOM2     2-0036-003chr8:
2032818-2032818
AGintronicDe novo--Yuen2016 G
MYOM2     AU3913303chr8:
2197933-2197933
CTintergenicDe novo--Yuen2017 G
MYOM2     1-0028-003chr8:
2355363-2355363
CGintergenicDe novo--Yuen2017 G
MYOM2     AU4347301chr8:
2249367-2249367
AGintergenicDe novo--Yuen2017 G
MYOM2     1-0490-003chr8:
2258647-2258647
GAintergenicDe novo--Yuen2017 G
MYOM2     2-1501-003chr8:
2262152-2262152
CGintergenicDe novo--Yuen2017 G
MYOM2     1-0490-003chr8:
2257854-2257854
GCintergenicDe novo--Yuen2017 G
MYOM2     1-0490-003chr8:
2258842-2258842
CGintergenicDe novo--Yuen2017 G
MYOM2     1-0533-003chr8:
2384943-2384943
GAintergenicDe novo--Yuen2017 G
MYOM2     2-0300-003chr8:
2017596-2017596
CTexonicDe novononsynonymous SNVNM_003970c.C773Tp.S258L8.3424.118E-5Yuen2017 G
MYOM2     2-1322-003chr8:
2296877-2296877
GTintergenicDe novo--Yuen2017 G
MYOM2     3-0169-000chr8:
2315537-2315537
TCintergenicDe novo--Yuen2016 G
MYOM2     3-0437-000chr8:
2203330-2203330
GAintergenicDe novo--Yuen2016 G
MYOM2     DEASD_1046_001chr8:
2044149-2044149
GAexonicDe novononsynonymous SNVNM_003970c.G2188Ap.G730S32.07.414E-5Satterstrom2020 E
MYOM2     AU072905chr8:
2193433-2193433
GCintergenicDe novo--Yuen2017 G
MYOM2     AU4067301chr8:
2250914-2250917
TTCTTTintergenicDe novo--Yuen2017 G
MYOM2     1-0914-003chr8:
2031957-2031957
GAintronicDe novo--Yuen2017 G
MYOM2     AU054303chr8:
2249824-2249824
TGintergenicDe novo--Yuen2017 G
MYOM2     1-0107-003chr8:
2032305-2032305
GAintronicDe novo--Yuen2017 G
MYOM2     2-0158-003chr8:
2345737-2345737
CGintergenicDe novo--Yuen2017 G
MYOM2     2-1562-003chr8:
2080196-2080196
GAintronicDe novo--Yuen2017 G
MYOM2     AU02304chr8:
2027642-2027642
CTexonicDe novosynonymous SNVNM_003970c.C1464Tp.A488A-1.647E-5DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
MYOM2     Cukier2014:7663chr8:
2050520-2050520
GAexonicUnknownnonsynonymous SNVNM_003970c.G2683Ap.V895M14.640.0017Cukier2014 E
MYOM2     1-0120-003chr8:
2339770-2339776
CGTGTGTCGTGTintergenicDe novo--Yuen2017 G
MYOM2     AU4465303chr8:
2130300-2130300
CTintergenicDe novo--Yuen2017 G
MYOM2     2-1329-003chr8:
2155264-2155264
GAintergenicDe novo--Yuen2017 G
MYOM2     2-1365-003chr8:
2249891-2249891
TCintergenicDe novo--Yuen2017 G
MYOM2     1-0046-003chr8:
2212370-2212370
GCintergenicDe novo--Yuen2017 G
MYOM2     2-0016-003chr8:
2032818-2032818
AGintronicDe 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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