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Results for "MYO7A"

Variant Events: 41

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     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     7-0082-003chr11:
76889481-76889482
CTTTTAintronicDe novo--Trost2022 G
MYO7A     1-0018-004chr11:
76889481-76889482
CTTTTAintronicDe novo--Trost2022 G
MYO7A     2-1093-009chr11:
76889440-76889440
AATintronicDe novo--Yuen2017 G
MYO7A     5-5119-003chr11:
76876503-76876503
CTintronicDe novo--Trost2022 G
MYO7A     5-0003-003chr11:
76889437-76889437
TTCCGCintronicDe novo--Yuen2017 G
MYO7A     SP0169582chr11:
76886427-76886427
CTexonicDe novononsynonymous SNVNM_000260
NM_001127179
NM_001127180
c.C2104T
c.C2104T
c.C2104T
p.R702C
p.R702C
p.R702C
13.922.503E-5Trost2022 G
MYO7A     1-0300-004chr11:
76889357-76889357
AATintronicDe novo--Yuen2017 G
MYO7A     SP0214872chr11:
76873927-76873927
TGexonicDe novononsynonymous SNVNM_000260
NM_001127179
NM_001127180
c.T1583G
c.T1583G
c.T1583G
p.L528R
p.L528R
p.L528R
19.75-Trost2022 G
MYO7A     MSSNG00366-004chr11:
76876482-76876482
GAintronicDe novo--Trost2022 G
MYO7A     12462.p1chr11:
76925750-76925750
GAUTR3De novo--Krumm2015 E
MYO7A     2-0208-003chr11:
76889461-76889461
TTTCACintronicDe novo--Yuen2017 G
MYO7A     MSSNG00334-004chr11:
76863086-76863086
AGintronicDe novo--Trost2022 G
MYO7A     13613.p1chr11:
76869496-76869496
GAintronicDe novo-1.704E-5Krumm2015 E
MYO7A     3-0648-000chr11:
76868844-76868844
GAintronicDe novo--Trost2022 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     3-0228-000chr11:
76906910-76906910
TGintronicDe novo--Trost2022 G
MYO7A     1-1196-003chr11:
76923919-76923919
GAintronicDe novo--Trost2022 G
MYO7A     SP0009922chr11:
76871202-76871202
GAintronicDe novo--Fu2022 E
Zhou2022 GE
MYO7A     SP0084587chr11:
76892946-76892946
TGintronicDe novo--Trost2022 G
MYO7A     5-0004-003chr11:
76889396-76889396
AATCCATCCATCCATCCGintronicDe novo--Yuen2017 G
MYO7A     SP0148731chr11:
76895740-76895740
CTexonicDe novosynonymous SNVNM_000260
NM_001127179
NM_001127180
c.C3483T
c.C3483T
c.C3483T
p.G1161G
p.G1161G
p.G1161G
--Trost2022 G
MYO7A     1-0903-003chr11:
76889481-76889482
CTTTTAintronicDe novo--Trost2022 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     2-1252-003chr11:
76889481-76889482
CTTTTAintronicDe novo--Trost2022 G
MYO7A     428-05-103614chr11:
76870580-76870580
GCintronicDe novo--Satterstrom2020 E
Trost2022 G
MYO7A     08C75919chr11:
76912673-76912673
GAexonicDe novononsynonymous SNVNM_000260
NM_001127180
c.G5033A
c.G4919A
p.R1678Q
p.R1640Q
7.7771.0E-4Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYO7A     1-0006-003chr11:
76889440-76889440
AATintronicDe novo--Yuen2017 G
MYO7A     1-0191-004chr11:
76882479-76882479
CGintronicDe novo--Trost2022 G
Yuen2017 G
MYO7A     AU2695301chr11:
76912673-76912673
GAexonicnonsynonymous SNVNM_000260
NM_001127180
c.G5033A
c.G4919A
p.R1678Q
p.R1640Q
7.7771.0E-4Zhou2022 GE
MYO7A     13913.p1chr11:
76890902-76890902
GAexonicnonsynonymous SNVNM_000260
NM_001127179
NM_001127180
c.G2489A
c.G2489A
c.G2489A
p.R830H
p.R830H
p.R830H
34.02.0E-4Zhou2022 GE
MYO7A     SP0039518chr11:
76869269-76869269
TGintronicDe novo--Fu2022 E
Trost2022 G
MYO7A     SP0096153chr11:
76866887-76866887
ACintronicDe novo--Fu2022 E
MYO7A     1-0201-005chr11:
76889437-76889437
TTCCGCintronicDe novo--Yuen2017 G
MYO7A     AU3858303chr11:
76867318-76867318
GAintronicDe novo--Trost2022 G
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
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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