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Results for "RYR1"

Variant Events: 26

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
RYR1     11401.p1chr19:
39077208-39077208
AGexonicDe novononsynonymous SNVNM_001042723
NM_000540
c.A14998G
c.A15013G
p.T5000A
p.T5005A
14.19-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
RYR1     13069.p1chr19:
39000156-39000156
GAintronicDe novo--Turner2016 G
RYR1     2-1507-003chr19:
39053171-39053171
CTintronicDe novo--Yuen2017 G
RYR1     127-09-111080chr19:
38991635-38991635
GAintronicDe novo--Satterstrom2020 E
RYR1     1-0246-005chr19:
39024778-39024778
AGintronicDe novo--Yuen2017 G
RYR1     SSC02256chr19:
39077208-39077208
AGexonicDe novononsynonymous SNVNM_001042723
NM_000540
c.A14998G
c.A15013G
p.T5000A
p.T5005A
14.19-Lim2017 E
RYR1     AU03703chr19:
38956904-38956904
GAexonicDe novononsynonymous SNVNM_000540
NM_001042723
c.G3044A
c.G3044A
p.R1015H
p.R1015H
11.67-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RYR1     1548-22146chr19:
38949911-38949911
GAexonicInheritednonsynonymous SNVNM_000540
NM_001042723
c.G2293A
c.G2293A
p.G765S
p.G765S
17.93-Callaghan2019 G
RYR1     2-1619-003chr19:
38999179-38999179
CTintronicDe novo--Yuen2017 G
RYR1     21686-34166chr19:
38934225-38934225
CTexonicInheritednonsynonymous SNVNM_000540
NM_001042723
c.C298T
c.C298T
p.L100F
p.L100F
15.59-Callaghan2019 G
RYR1     G01-GEA-28-HIchr19:
38954510-38954510
GAintronicDe novo-1.0E-4Satterstrom2020 E
RYR1     AU3777301chr19:
39027001-39027001
AGintronicDe novo--Yuen2017 G
RYR1     iHART1264chr19:
39068556-39068556
AGsplicingMaternalsplicing20.2-Ruzzo2019 G
RYR1     iHART2549chr19:
38986970-38986970
GAsplicingMaternalsplicing14.528.276E-6Ruzzo2019 G
RYR1     7-0191-003chr19:
39010785-39010785
GCintronicDe novo--Yuen2017 G
RYR1     2-1366-003chr19:
39037661-39037661
AGintronicDe novo--Yuen2017 G
RYR1     PN400118chr19:
38949938-38949938
GAexonicInheritednonsynonymous SNVNM_000540
NM_001042723
c.G2320A
c.G2320A
p.G774R
p.G774R
15.463.0E-4Leblond2019 E
RYR1     08C73996chr19:
38973634-38973634
GAintronicDe novo-2.0E-4Satterstrom2020 E
RYR1     80001100930chr19:
38948732-38948732
CTexonicDe novononsynonymous SNVNM_000540
NM_001042723
c.C1967T
c.C1967T
p.T656M
p.T656M
13.151.652E-5Satterstrom2020 E
RYR1     3-0027-000chr19:
39025386-39025386
CTexonicDe novosynonymous SNVNM_001042723
NM_000540
c.C11271T
c.C11286T
p.L3757L
p.L3762L
--Tammimies2015 E
Yuen2015 G
RYR1     1-0024-003chr19:
38980356-38980356
CTintronicDe novo--Yuen2017 G
RYR1     09C84847chr19:
38997232-38997232
GCintronicDe novo--Satterstrom2020 E
RYR1     14403.p1chr19:
38954113-38954113
CTexonicDe novosynonymous SNVNM_000540
NM_001042723
c.C2628T
c.C2628T
p.N876N
p.N876N
--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RYR1     MR_1029_bchr19:
38937175-38937175
TGexonicDe novononsynonymous SNVNM_000540
NM_001042723
c.T695G
c.T695G
p.I232S
p.I232S
16.83-Satterstrom2020 E
RYR1     13464.p1chr19:
39019316-39019316
GAexonicDe novononsynonymous SNVNM_001042723
NM_000540
c.G11000A
c.G11015A
p.R3667H
p.R3672H
13.438.254E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
RYR1     12373.p1chr19:
39038884-39038884
AGexonicDe novononsynonymous SNVNM_001042723
NM_000540
c.A12091G
c.A12106G
p.N4031D
p.N4036D
14.79-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 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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