Variant Results

or

or

Results for "ACTN1"

Variant Events: 19

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

AU2355301

chr14:
69358715-69358715

G

A

intronic

De novo

-

-

Trost2022 G

ACTN1

PN400257

chr14:
69346681-69346681

G

A

exonic

Unknown

nonsynonymous SNV

NM_001102
NM_001130004
NM_001130005

c.C2278T
c.C2278T
c.C2278T

p.R760W
p.R760W
p.R760W

18.96

Leblond2019 E

ACTN1

1-0599-005

chr14:
69359232-69359232

T

A

intronic

De novo

-

-

Trost2022 G

ACTN1

AU4032305

chr14:
69427406-69427406

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACTN1

4-0007-003

chr14:
69440860-69440860

G

C

intronic

De novo

-

-

Trost2022 G

ACTN1

1-0625-003

chr14:
69341904-69341904

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACTN1

SP0021986

chr14:
69392316-69392316

C

T

exonic

De novo

nonsynonymous SNV

NM_001102
NM_001130004
NM_001130005

c.G179A
c.G179A
c.G179A

p.R60Q
p.R60Q
p.R60Q

25.1

Trost2022 G

ACTN1

MSSNG00218-003

chr14:
69412916-69412916

C

T

intronic

De novo

-

-

Trost2022 G

ACTN1

2-1737-003

chr14:
69394279-69394279

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACTN1

14-600

chr14:
69382551-69382551

T

C

intronic

De novo

-

-

Trost2022 G

ACTN1

SP0168466

chr14:
69387836-69387836

C

T

exonic

De novo

nonsynonymous SNV

NM_001102
NM_001130004
NM_001130005

c.G227A
c.G227A
c.G227A

p.R76H
p.R76H
p.R76H

20.2

Trost2022 G

ACTN1

SP0102469

chr14:
69352043-69352043

C

CA

intronic

De novo

-

-

Fu2022 E

ACTN1

48-14470

chr14:
69343938-69343938

C

T

exonic

Inherited

nonsynonymous SNV

NM_001102
NM_001130005
NM_001130004

c.G2381A
c.G2366A
c.G2447A

p.R794H
p.R789H
p.R816H

32.0

-

Callaghan2019 G

ACTN1

PN400272

chr14:
69358985-69358985

G

A

exonic

Unknown

nonsynonymous SNV

NM_001102
NM_001130004
NM_001130005

c.C871T
c.C871T
c.C871T

p.R291C
p.R291C
p.R291C

29.2

Leblond2019 E

ACTN1

08C73458

chr14:
69360426-69360426

G

A

exonic

De novo

synonymous SNV

NM_001102
NM_001130004
NM_001130005

c.C801T
c.C801T
c.C801T

p.A267A
p.A267A
p.A267A

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ACTN1

PN400272

chr14:
69346681-69346681

G

A

exonic

Inherited, Unknown

nonsynonymous SNV

NM_001102
NM_001130004
NM_001130005

c.C2278T
c.C2278T
c.C2278T

p.R760W
p.R760W
p.R760W

18.96

Leblond2019 E
Leblond2019 E

ACTN1

AU4070301

chr14:
69377029-69377029

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACTN1

PN400289

chr14:
69346681-69346681

G

A

exonic

Unknown

nonsynonymous SNV

NM_001102
NM_001130004
NM_001130005

c.C2278T
c.C2278T
c.C2278T

p.R760W
p.R760W
p.R760W

18.96

Leblond2019 E

ACTN1

F10406-1

chr14:
69371386-69371386

A

C

exonic

De novo

nonsynonymous SNV

NM_001102
NM_001130004
NM_001130005

c.T662G
c.T662G
c.T662G

p.M221R
p.M221R
p.M221R

24.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

Source Variant Information

, -

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 notes	View
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