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Results for "MYO9B"

Variant Events: 17

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
MYO9B     14018.p1chr19:
17311468-17311468
CTexonicMosaic, De novononsynonymous SNVNM_001130065
NM_004145
c.C4393T
c.C4393T
p.R1465C
p.R1465C
7.9185.324E-5Dou2017 E
Iossifov2014 E
Kosmicki2017 E
MYO9B     16260-27149chr19:
17318004-17318004
GAexonicInheritednonsynonymous SNVNM_001130065
NM_004145
c.G5575A
c.G5575A
p.D1859N
p.D1859N
21.9-Callaghan2019 G
MYO9B     2-0285-003chr19:
17213124-17213124
CTexonicDe novosynonymous SNVNM_001130065
NM_004145
c.C597T
c.C597T
p.Y199Y
p.Y199Y
-8.281E-6Yuen2015 G
Yuen2017 G
MYO9B     1-0393-003chr19:
17219160-17219160
CTintronicDe novo--Yuen2017 G
MYO9B     1842001chr19:
17267819-17267819
GAexonicDe novononsynonymous SNVNM_001130065
NM_004145
c.G1300A
c.G1300A
p.V434M
p.V434M
27.8-Satterstrom2020 E
MYO9B     AU050910chr19:
17294563-17294563
GAintronicDe novo--Yuen2017 G
MYO9B     DEASD_1014_001chr19:
17308680-17308680
CTintronicDe novo-1.0E-4Satterstrom2020 E
MYO9B     13870.p1chr19:
17283123-17283123
AGintronicDe novo-8.356E-6Satterstrom2020 E
MYO9B     12501.p1chr19:
17318044-17318044
AGexonicDe novononsynonymous SNVNM_001130065
NM_004145
c.A5615G
c.A5615G
p.K1872R
p.K1872R
15.78-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
MYO9B     7-0123-003chr19:
17255176-17255176
AGintronicDe novo--Yuen2017 G
MYO9B     5-0111-003chr19:
17289470-17289470
TCintronicDe novo--Yuen2017 G
MYO9B     7-0100-004chr19:
17308208-17308208
AAGATintronicDe novo--Yuen2017 G
MYO9B     Viggiano2022:22.3chr19:
17314011-17314011
CTexonicMaternalnonsynonymous SNVNM_001130065
NM_004145
c.C4934T
c.C4934T
p.S1645L
p.S1645L
21.93.43E-5Viggiano2022 GT
MYO9B     AU134Achr19:
17306176-17306176
CTexonicDe novononsynonymous SNVNM_001130065
NM_004145
c.C3940T
c.C3940T
p.R1314W
p.R1314W
14.71.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MYO9B     ASDFI_764chr19:
17311567-17311567
CCGexonicDe novoframeshift insertionNM_001130065
NM_004145
c.4493dupG
c.4493dupG
p.R1498fs
p.R1498fs
--DeRubeis2014 E
Kosmicki2017 E
MYO9B     DEASD_1027_001chr19:
17283750-17283750
CTexonicDe novosynonymous SNVNM_001130065
NM_004145
c.C2118T
c.C2118T
p.A706A
p.A706A
--Satterstrom2020 E
MYO9B     Viggiano2022:22.4chr19:
17314011-17314011
CTexonicMaternalnonsynonymous SNVNM_001130065
NM_004145
c.C4934T
c.C4934T
p.S1645L
p.S1645L
21.93.43E-5Viggiano2022 GT
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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