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Results for "MYO5B"

Variant Events: 25

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
MYO5B     1-0990-003chr18:
47388892-47388892
GAintronicDe novo--Yuen2017 G
MYO5B     5-0017-004chr18:
47493794-47493794
GAintronicDe novo--Yuen2017 G
MYO5B     AU043804chr18:
47644251-47644251
GAintronicDe novo--Yuen2017 G
MYO5B     10C100577chr18:
47506898-47506898
GAexonicDe novosynonymous SNVNM_001080467c.C972Tp.S324S--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
MYO5B     1-0973-003chr18:
47457403-47457403
CGintronicDe novo--Yuen2017 G
MYO5B     AU4033305chr18:
47460641-47460641
GCintronicDe novo--Yuen2017 G
MYO5B     7-0130-003chr18:
47563443-47563443
AGintronicDe novo--Yuen2017 G
MYO5B     646-05-104479chr18:
47432983-47432983
CGexonicDe novononsynonymous SNVNM_001080467c.G2220Cp.Q740H19.52-Satterstrom2020 E
MYO5B     2-0016-003chr18:
47691522-47691522
TAintronicDe novo--Yuen2017 G
MYO5B     AU3906301chr18:
47476981-47476981
GAintronicDe novo--Yuen2017 G
MYO5B     1-0402-003chr18:
47724756-47724760
TGATCTintergenicDe novo--Yuen2017 G
MYO5B     5-0077-004chr18:
47424893-47424896
TACCTintronicDe novo--Yuen2017 G
MYO5B     2-0036-003chr18:
47691522-47691522
TAintronicDe novo--Yuen2016 G
MYO5B     7-0160-003chr18:
47441647-47441647
CAintronicDe novo--Yuen2017 G
MYO5B     1-0197-003chr18:
47671171-47671171
TCintronicDe novo--Yuen2017 G
MYO5B     80001101216chr18:
47721103-47721103
GAintronicDe novo--Satterstrom2020 E
MYO5B     5-0077-003chr18:
47424893-47424896
TACCTintronicDe novo--Yuen2017 G
MYO5B     AU031004chr18:
47601309-47601311
GCCGCintronicDe novo--Yuen2017 G
MYO5B     AU1308303chr18:
47462705-47462705
CTexonicDe novosynonymous SNVNM_001080467c.G1920Ap.L640L--Yuen2017 G
MYO5B     2-1180-003chr18:
47379557-47379557
ACintronicDe novo--Yuen2016 G
Yuen2017 G
MYO5B     13236.p1chr18:
47581662-47581662
TCexonicDe novosynonymous SNVNM_001080467c.A114Gp.L38L--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
MYO5B     1-0513-003chr18:
47449737-47449737
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MYO5B     AU4033303chr18:
47433431-47433431
GAintronicDe novo--Yuen2017 G
MYO5B     A30chr18:
47717032-47717032
GAintronicDe novo--Wu2018 G
MYO5B     1-0898-003chr18:
47586764-47586764
ACintronicDe 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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