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Results for "MYO7A"

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
MYO7A     1-0339-003chr11:
76889405-76889405
CCCTATintronicDe novo--Yuen2017 G
MYO7A     Shi2013:2chr11:
76909548-76909548
CAexonicInheritednonsynonymous SNVNM_000260
NM_001127180
c.C4450A
c.C4450A
p.L1484I
p.L1484I
22.18.334E-6Shi2013 G
MYO7A     2-1066-003chr11:
76889401-76889401
CCCTCACCCATintronicDe novo--Yuen2017 G
MYO7A     5-0004-003chr11:
76889396-76889396
AATCCATCCATCCATCCGintronicDe novo--Yuen2017 G
MYO7A     Shi2013:1chr11:
76909548-76909548
CAexonicInheritednonsynonymous SNVNM_000260
NM_001127180
c.C4450A
c.C4450A
p.L1484I
p.L1484I
22.18.334E-6Shi2013 G
MYO7A     428-05-103614chr11:
76870580-76870580
GCintronicDe novo--Satterstrom2020 E
MYO7A     08C75919chr11:
76912673-76912673
GAexonicDe novononsynonymous SNVNM_000260
NM_001127180
c.G5033A
c.G4919A
p.R1678Q
p.R1640Q
7.7771.0E-4Satterstrom2020 E
MYO7A     1-0006-003chr11:
76889440-76889440
AATintronicDe novo--Yuen2017 G
MYO7A     1-0191-004chr11:
76882479-76882479
CGintronicDe novo--Yuen2017 G
MYO7A     13946.p1chr11:
76857774-76857774
CAintronicDe novo--Turner2016 G
MYO7A     1-0458-003chr11:
76889400-76889400
AATCCATCCATCCGintronicDe novo--Yuen2017 G
MYO7A     2-0006-004chr11:
76889401-76889401
CCCTATintronicDe novo--Yuen2017 G
MYO7A     1-0201-005chr11:
76889437-76889437
TTCCGCintronicDe novo--Yuen2017 G
MYO7A     AU3858303chr11:
76867318-76867318
GAintronicDe novo--Yuen2017 G
MYO7A     12119.p1chr11:
76922320-76922320
CTexonicMosaicsynonymous SNVNM_000260
NM_001127180
c.C6175T
c.C6061T
p.L2059L
p.L2021L
--Dou2017 E
MYO7A     5141_201_childchr11:
76891512-76891512
CTexonicDe novosynonymous SNVNM_000260
NM_001127179
NM_001127180
c.C2679T
c.C2679T
c.C2679T
p.A893A
p.A893A
p.A893A
-2.704E-5Neale2012 E
MYO7A     2-1093-009chr11:
76889440-76889440
AATintronicDe novo--Yuen2017 G
MYO7A     5-0003-003chr11:
76889437-76889437
TTCCGCintronicDe novo--Yuen2017 G
MYO7A     1-0300-004chr11:
76889357-76889357
AATintronicDe novo--Yuen2017 G
MYO7A     12462.p1chr11:
76925750-76925750
GAUTR3De novo--Krumm2015 E
MYO7A     2-0208-003chr11:
76889461-76889461
TTTCACintronicDe novo--Yuen2017 G
MYO7A     13613.p1chr11:
76869496-76869496
GAintronicDe novo-1.704E-5Krumm2015 E
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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