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Results for "MYO6"

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
MYO6     AU2410302chr6:
76501716-76501716
TGintronicDe novo--Trost2022 G
Yuen2017 G
MYO6     09C86250chr6:
76599862-76599862
ACexonicDe novononsynonymous SNVNM_001300899
NM_004999
c.A2747C
c.A2747C
p.K916T
p.K916T
16.561.66E-5Lim2017 E
MYO6     AU2075302chr6:
76477382-76477382
CTintronicDe novo--Trost2022 G
Yuen2017 G
MYO6     iHART1857chr6:
76542573-76542573
CTexonicPaternalstopgainNM_001300899
NM_004999
c.C406T
c.C406T
p.R136X
p.R136X
39.0-Ruzzo2019 G
MYO6     MT_35.3chr6:
76564263-76564263
GAintronicDe novo--Trost2022 G
MYO6     4-0073-003chr6:
76594435-76594436
GATTintronicDe novo--Trost2022 G
MYO6     REACH000323chr6:
76547737-76547737
TCintronicDe novo--Trost2022 G
MYO6     3-0345-001chr6:
76562536-76562536
AGintronicDe novo--Trost2022 G
MYO6     1-1174-003chr6:
76491074-76491074
GAintronicDe novo--Trost2022 G
MYO6     SP0010139chr6:
76591494-76591494
GAexonicnonsynonymous SNVNM_001300899
NM_004999
c.G2375A
c.G2375A
p.R792H
p.R792H
35.0-Zhou2022 GE
MYO6     MT_14.3chr6:
76512434-76512434
GAintronicDe novo--Trost2022 G
MYO6     MT_191.3chr6:
76479972-76479972
CTintronicDe novo--Trost2022 G
MYO6     1-0336-003chr6:
76522092-76522092
CGintronicDe novo--Trost2022 G
Yuen2017 G
MYO6     5-5077-003chr6:
76491058-76491058
CTintronicDe novo--Trost2022 G
MYO6     mAGRE1857chr6:
76542573-76542573
CTexonicPaternalstopgainNM_001300899
NM_004999
c.C406T
c.C406T
p.R136X
p.R136X
39.0-Cirnigliaro2023 G
MYO6     SP0138441chr6:
76570819-76570820
GTGintronicDe novo--Fu2022 E
MYO6     09C81988chr6:
76545714-76545714
ACintronicDe novo--Satterstrom2020 E
Trost2022 G
MYO6     SP0082557chr6:
76551056-76551056
TCexonicDe novosynonymous SNVNM_001300899
NM_004999
c.T777C
c.T777C
p.I259I
p.I259I
--Fu2022 E
Trost2022 G
Zhou2022 GE
MYO6     MSSNG00085-003chr6:
76600735-76600735
TCintronicDe novo--Trost2022 G
MYO6     3-0419-000chr6:
76603232-76603232
CTintronicDe novo--Trost2022 G
MYO6     1-0367-003chr6:
76545714-76545714
ACintronicDe novo--Yuen2017 G
MYO6     SMHC00912s000chr6:
76596584-76596584
GAexonicDe novononsynonymous SNVNM_001300899
NM_004999
c.G2531A
c.G2531A
p.G844D
p.G844D
11.03-Yuan2023 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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