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Results for "MYO9A"

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
MYO9A     1-0226-005chr15:
72264579-72264579
CTintronicDe novo--Yuen2017 G
MYO9A     2-1276-003chr15:
72166811-72166811
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MYO9A     3-0216-000chr15:
72189998-72189998
TAexonicDe novononsynonymous SNVNM_006901c.A4846Tp.T1616S8.378-Yuen2017 G
MYO9A     Cukier2014:17302chr15:
72189952-72189952
TAexonicUnknownnonsynonymous SNVNM_006901c.A4892Tp.N1631I13.530.0162Cukier2014 E
MYO9A     AU3729301chr15:
72222491-72222491
TGintronicDe novo--Yuen2017 G
MYO9A     1-0233-004chr15:
72118339-72118339
TTTGdownstreamDe novo--Yuen2017 G
MYO9A     7-0035-003chr15:
72354328-72354328
GCintronicDe novo--Yuen2017 G
MYO9A     2-1315-003chr15:
72251167-72251167
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MYO9A     AU3811305chr15:
72253391-72253392
GTGTTintronicDe novo--Yuen2017 G
MYO9A     AU1725306chr15:
72136674-72136674
CTintronicDe novo--Yuen2017 G
MYO9A     1-0332-003chr15:
72121992-72121992
ACintronicDe novo--Yuen2017 G
MYO9A     7-0128-003chr15:
72137464-72137464
ACintronicDe novo--Yuen2017 G
MYO9A     1-0274-003chr15:
72248357-72248357
TTGintronicDe novo--Yuen2017 G
MYO9A     2-0003-003chr15:
72258979-72258979
CTintronicDe novo--Yuen2017 G
MYO9A     1-0112-004chr15:
72406445-72406445
AGintronicDe novo--Yuen2017 G
MYO9A     Cukier2014:17122chr15:
72189952-72189952
TAexonicUnknownnonsynonymous SNVNM_006901c.A4892Tp.N1631I13.530.0162Cukier2014 E
MYO9A     2-0319-004chr15:
72345275-72345275
ATintronicDe novo--Yuen2017 G
MYO9A     928-19074chr15:
72186120-72186120
CTsplicingsplicing14.64.0E-4Callaghan2019 G
MYO9A     1876-23644chr15:
72186120-72186120
CTsplicingsplicing14.64.0E-4Callaghan2019 G
MYO9A     2-1442-003chr15:
72354191-72354191
TCintronicDe novo--Yuen2016 G
Yuen2017 G
MYO9A     2-1577-003chr15:
72190076-72190076
ATexonicDe novononsynonymous SNVNM_006901c.T4768Ap.S1590T0.003-Yuen2017 G
MYO9A     AU3649304chr15:
72393150-72393150
AGintronicDe novo--Yuen2017 G
MYO9A     1-0448-003chr15:
72372319-72372319
AGintronicDe novo--Yuen2017 G
MYO9A     7-0024-003chr15:
72281296-72281296
CTintronicDe novo--Yuen2017 G
MYO9A     SP0010081chr15:
72190403-72190405
CTGCexonicDe novoframeshift deletionNM_006901c.4439_4440delp.T1480fs--Feliciano2019 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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