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Results for "ACVR1"

Variant Events: 28

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     2-0240-004chr2:
158773561-158773561
TCintergenicDe novo--Yuen2017 G
ACVR1     2-1567-004chr2:
158773584-158773584
GAintergenicDe novo--Yuen2017 G
ACVR1     PN400491chr2:
158626951-158626951
CTexonicUnknownnonsynonymous SNVNM_001105
NM_001111067
c.G719A
c.G719A
p.R240H
p.R240H
35.0-Leblond2019 E
ACVR1     1-0406-003chr2:
158773679-158773679
TCintergenicDe novo--Yuen2017 G
ACVR1     2-0127-004chr2:
158773573-158773573
TCintergenicDe novo--Yuen2017 G
ACVR1     2-0182-003chr2:
158761151-158761151
ATintergenicDe novo--Yuen2017 G
ACVR1     2-1505-003chr2:
158773573-158773573
TCintergenicDe novo--Yuen2017 G
ACVR1     Hu2022:53chr2:
158626989-158626989
CTexonicUnknownstopgainNM_001105
NM_001111067
c.G681A
c.G681A
p.W227X
p.W227X
40.0-Hu2022 T
ACVR1     2-0318-004chr2:
158636748-158636748
TAintronicDe novo--Trost2022 G
Yuen2017 G
ACVR1     PN400347chr2:
158617452-158617452
CAexonicUnknownnonsynonymous SNVNM_001105
NM_001111067
c.G1204T
c.G1204T
p.V402F
p.V402F
26.08.249E-6Leblond2019 E
ACVR1     7-0260-003chr2:
158592145-158592145
CGdownstreamDe novo--Trost2022 G
ACVR1     MSSNG00027-003chr2:
158598560-158598560
AGintronicDe novo--Trost2022 G
ACVR1     2-1352-003chr2:
158655009-158655009
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ACVR1     2-1089-004chr2:
158773584-158773584
GAintergenicDe novo--Yuen2017 G
ACVR1     AU3724301chr2:
158784524-158784524
GTintergenicDe novo--Yuen2017 G
ACVR1     7-0364-003chr2:
158725068-158725068
TGintronicDe novo--Trost2022 G
ACVR1     3-0662-000chr2:
158733462-158733462
CGintergenicDe novo--Trost2022 G
ACVR1     GEA442chr2:
158630627-158630627
GAexonicDe novononsynonymous SNVNM_001105
NM_001111067
c.C616T
c.C616T
p.R206C
p.R206C
25.9-Fu2022 E
ACVR1     MT_189.3 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
ACVR1     2-0289-004chr2:
158773546-158773546
GAintergenicDe novo--Yuen2017 G
ACVR1     2-1416-004chr2:
158773573-158773573
TCintergenicDe novo--Yuen2017 G
ACVR1     2-1454-003chr2:
158648278-158648278
TCintronicDe novo--Trost2022 G
Yuen2017 G
ACVR1     3-0719-000chr2:
158695440-158695440
CGintronicDe novo--Trost2022 G
ACVR1     E3F6Y_01chr2:
158653032-158653032
CTintronicDe novo--Trost2022 G
ACVR1     SSC03535chr2:
158622512-158622512
TGexonicDe novononsynonymous SNVNM_001105
NM_001111067
c.A987C
c.A987C
p.K329N
p.K329N
23.6-Fu2022 E
ACVR1     MSSNG00359-003chr2:
158655608-158655608
CGintronicDe novo--Trost2022 G
ACVR1     DEASD_0290_001chr2:
158622623-158622623
GAexonicDe novosynonymous SNVNM_001105
NM_001111067
c.C876T
c.C876T
p.Y292Y
p.Y292Y
-3.298E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ACVR1     AU4032306chr2:
158641038-158641038
AGintronicDe novo--Trost2022 G
Yuen2017 G
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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