Variant Results

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Results for "ACVR1"

Variant Events: 20

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

ACVR1

2-1505-003

chr2:
158773573-158773573

T

C

intergenic

De novo

-

-

Yuen2017 G

ACVR1

Hu2022:53

chr2:
158626989-158626989

C

T

exonic

Unknown

stopgain

NM_001105
NM_001111067

c.G681A
c.G681A

p.W227X
p.W227X

40.0

-

Hu2022 T

ACVR1

2-0240-004

chr2:
158773561-158773561

T

C

intergenic

De novo

-

-

Yuen2017 G

ACVR1

2-0318-004

chr2:
158636748-158636748

T

A

intronic

De novo

-

-

Yuen2017 G

ACVR1

2-1567-004

chr2:
158773584-158773584

G

A

intergenic

De novo

-

-

Yuen2017 G

ACVR1

PN400347

chr2:
158617452-158617452

C

A

exonic

Unknown

nonsynonymous SNV

NM_001105
NM_001111067

c.G1204T
c.G1204T

p.V402F
p.V402F

26.0

Leblond2019 E

ACVR1

PN400491

chr2:
158626951-158626951

C

T

exonic

Unknown

nonsynonymous SNV

NM_001105
NM_001111067

c.G719A
c.G719A

p.R240H
p.R240H

35.0

-

Leblond2019 E

ACVR1

2-1352-003

chr2:
158655009-158655009

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ACVR1

2-1089-004

chr2:
158773584-158773584

G

A

intergenic

De novo

-

-

Yuen2017 G

ACVR1

1-0406-003

chr2:
158773679-158773679

T

C

intergenic

De novo

-

-

Yuen2017 G

ACVR1

AU3724301

chr2:
158784524-158784524

G

T

intergenic

De novo

-

-

Yuen2017 G

ACVR1

GEA442

chr2:
158630627-158630627

G

A

exonic

De novo

nonsynonymous SNV

NM_001105
NM_001111067

c.C616T
c.C616T

p.R206C
p.R206C

25.9

-

Fu2022 E

ACVR1

2-0289-004

chr2:
158773546-158773546

G

A

intergenic

De novo

-

-

Yuen2017 G

ACVR1

2-1416-004

chr2:
158773573-158773573

T

C

intergenic

De novo

-

-

Yuen2017 G

ACVR1

2-1454-003

chr2:
158648278-158648278

T

C

intronic

De novo

-

-

Yuen2017 G

ACVR1

SSC03535

chr2:
158622512-158622512

T

G

exonic

De novo

nonsynonymous SNV

NM_001105
NM_001111067

c.A987C
c.A987C

p.K329N
p.K329N

23.6

-

Fu2022 E

ACVR1

DEASD_0290_001

chr2:
158622623-158622623

G

A

exonic

De novo

synonymous SNV

NM_001105
NM_001111067

c.C876T
c.C876T

p.Y292Y
p.Y292Y

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ACVR1

2-0127-004

chr2:
158773573-158773573

T

C

intergenic

De novo

-

-

Yuen2017 G

ACVR1

2-0182-003

chr2:
158761151-158761151

A

T

intergenic

De novo

-

-

Yuen2017 G

ACVR1

AU4032306

chr2:
158641038-158641038

A

G

intronic

De novo

-

-

Yuen2017 G

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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