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Results for "MYO3B"

Variant Events: 23

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
MYO3B     iHART3046chr2:
171262075-171262075
CTexonicMaternalstopgainNM_001083615
NM_138995
c.C2452T
c.C2452T
p.R818X
p.R818X
40.04.144E-5Ruzzo2019 G
MYO3B     iHART3044chr2:
171262075-171262075
CTexonicMaternalstopgainNM_001083615
NM_138995
c.C2452T
c.C2452T
p.R818X
p.R818X
40.04.144E-5Ruzzo2019 G
MYO3B     1-0452-003chr2:
171216347-171216347
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3B     2-1129-003chr2:
171105410-171105410
TCintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3B     1-0299-004chr2:
171280419-171280419
GAintronicDe novo--Yuen2017 G
MYO3B     2-0043-003chr2:
171169891-171169891
ATintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3B     AU031204chr2:
171336152-171336161
CATATATATACATATATAintronicDe novo--Yuen2017 G
MYO3B     AU3847302chr2:
171187370-171187370
GAintronicDe novo--Yuen2017 G
MYO3B     AU4029302chr2:
171070796-171070796
AGintronicDe novo--Yuen2017 G
MYO3B     1-0436-003chr2:
171398986-171398986
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3B     1-0408-003chr2:
171438419-171438419
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3B     AU2458303chr2:
171340795-171340795
GAintronicDe novo--Yuen2017 G
MYO3B     1-0445-003chr2:
171211131-171211131
CGintronicDe novo--Yuen2017 G
MYO3B     A17chr2:
171469693-171469693
TCintronicDe novo--Wu2018 G
MYO3B     1-0636-003chr2:
171237074-171237076
AGGAGintronicDe novo--Yuen2017 G
MYO3B     2-1066-004chr2:
171459685-171459685
GAintronicDe novo--Yuen2017 G
MYO3B     2-0057-004chr2:
171512782-171512782
AAAATintergenicDe novo--Yuen2017 G
MYO3B     AU3586303chr2:
171385237-171385237
CTintronicDe novo--Yuen2017 G
MYO3B     14458.p1chr2:
171248071-171248071
GAexonicMosaic Mat.nonsynonymous SNVNM_001083615
NM_138995
c.G1619A
c.G1619A
p.G540D
p.G540D
29.64.217E-5Dou2017 E
MYO3B     2-1160-003chr2:
171395836-171395836
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MYO3B     1-0285-003chr2:
171065342-171065342
CTintronicDe novo--Yuen2017 G
MYO3B     1-0555-003chr2:
171257929-171257929
TCintronicDe novo--Yuen2017 G
MYO3B     A20chr2:
171175585-171175585
AGintronicDe novo--Wu2018 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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