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Results for "ACTN1"

Variant Events: 11

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
ACTN1     PN400257chr14:
69346681-69346681
GAexonicUnknownnonsynonymous SNVNM_001102
NM_001130004
NM_001130005
c.C2278T
c.C2278T
c.C2278T
p.R760W
p.R760W
p.R760W
18.962.479E-5Leblond2019 E
ACTN1     AU4032305chr14:
69427406-69427406
TAintronicDe novo--Yuen2017 G
ACTN1     48-14470chr14:
69343938-69343938
CTexonicInheritednonsynonymous SNVNM_001102
NM_001130005
NM_001130004
c.G2381A
c.G2366A
c.G2447A
p.R794H
p.R789H
p.R816H
32.0-Callaghan2019 G
ACTN1     PN400272chr14:
69358985-69358985
GAexonicUnknownnonsynonymous SNVNM_001102
NM_001130004
NM_001130005
c.C871T
c.C871T
c.C871T
p.R291C
p.R291C
p.R291C
29.25.893E-5Leblond2019 E
ACTN1     08C73458chr14:
69360426-69360426
GAexonicDe novosynonymous SNVNM_001102
NM_001130004
NM_001130005
c.C801T
c.C801T
c.C801T
p.A267A
p.A267A
p.A267A
-2.473E-5Satterstrom2020 E
ACTN1     PN400272chr14:
69346681-69346681
GAexonicInherited, Unknownnonsynonymous SNVNM_001102
NM_001130004
NM_001130005
c.C2278T
c.C2278T
c.C2278T
p.R760W
p.R760W
p.R760W
18.962.479E-5Leblond2019 E
Leblond2019 E
ACTN1     1-0625-003chr14:
69341904-69341904
CAintronicDe novo--Yuen2017 G
ACTN1     AU4070301chr14:
69377029-69377029
CGintronicDe novo--Yuen2017 G
ACTN1     PN400289chr14:
69346681-69346681
GAexonicUnknownnonsynonymous SNVNM_001102
NM_001130004
NM_001130005
c.C2278T
c.C2278T
c.C2278T
p.R760W
p.R760W
p.R760W
18.962.479E-5Leblond2019 E
ACTN1     2-1737-003chr14:
69394279-69394279
CAintronicDe novo--Yuen2017 G
ACTN1     F10406-1chr14:
69371386-69371386
ACexonicDe novononsynonymous SNVNM_001102
NM_001130004
NM_001130005
c.T662G
c.T662G
c.T662G
p.M221R
p.M221R
p.M221R
24.2-Satterstrom2020 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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