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Results for "RYR3"

Variant Events: 32

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
RYR3     A9chr15:
33765969-33765969
TCintronicDe novo--Wu2018 G
RYR3     2-1276-003chr15:
33796005-33796005
ATintronicDe novo--Yuen2016 G
Yuen2017 G
RYR3     1-0560-003chr15:
33843778-33843778
AGintronicDe novo--Yuen2017 G
RYR3     1-0299-003chr15:
33946219-33946232
CCACAGAGCAAACTCintronicDe novo--Yuen2017 G
RYR3     7-0032-003chr15:
33845590-33845590
CTintronicDe novo--Yuen2017 G
RYR3     11089.p1chr15:
33787858-33787858
GAintronicDe novo--Turner2016 G
RYR3     DEASD_0417_001chr15:
33955026-33955026
AGexonicDe novosynonymous SNVNM_001036
NM_001243996
c.A5295G
c.A5295G
p.G1765G
p.G1765G
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RYR3     AU031003chr15:
33677782-33677782
GTintronicDe novo--Yuen2017 G
RYR3     11338.p1chr15:
34040361-34040361
TCexonicDe novononsynonymous SNVNM_001036
NM_001243996
c.T8036C
c.T8036C
p.M2679T
p.M2679T
21.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
RYR3     1-0079-008chr15:
33737648-33737648
CTintronicDe novo--Yuen2017 G
RYR3     98HI0574Achr15:
33876670-33876670
GAexonicDe novononsynonymous SNVNM_001036
NM_001243996
c.G1648A
c.G1648A
p.D550N
p.D550N
34.0-Satterstrom2020 E
RYR3     1-0459-003chr15:
33875134-33875134
AGintronicDe novo--Yuen2017 G
RYR3     AU049304chr15:
34050550-34050550
GTintronicDe novo--Yuen2017 G
RYR3     7-0035-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
RYR3     SSC00051chr15:
34040361-34040361
TCexonicDe novononsynonymous SNVNM_001036
NM_001243996
c.T8036C
c.T8036C
p.M2679T
p.M2679T
21.1-Lim2017 E
RYR3     2-0098-003chr15:
33660111-33660111
GTintronicDe novo--Yuen2016 G
RYR3     1-0197-003chr15:
33988181-33988181
CAintronicDe novo--Yuen2017 G
RYR3     2-1164-003chr15:
34101279-34101279
GAintronicDe novo--Yuen2016 G
Yuen2017 G
RYR3     iHART1183chr15:
33999177-33999177
GTexonicMaternalstopgainNM_001036
NM_001243996
c.G6541T
c.G6541T
p.G2181X
p.G2181X
49.0-Ruzzo2019 G
RYR3     80001101242chr15:
34115151-34115151
GTintronicDe novo--Satterstrom2020 E
RYR3     2-1343-003chr15:
33861221-33861235
TTGTGTGTGTGTGTGTTGTGTGTGTGTGintronicDe novo--Yuen2017 G
RYR3     1624001chr15:
33954382-33954382
CTexonicDe novostopgainNM_001036
NM_001243996
c.C4651T
c.C4651T
p.Q1551X
p.Q1551X
45.0-Satterstrom2020 E
RYR3     PN400260chr15:
34078175-34078175
GTexonicUnknownnonsynonymous SNVNM_001036
NM_001243996
c.G9581T
c.G9581T
p.R3194L
p.R3194L
23.9-Leblond2019 E
RYR3     AU3057302chr15:
33998142-33998142
AGintronicDe novo--Yuen2017 G
RYR3     7-0256-003chr15:
33612836-33612836
AGintronicDe novo--Yuen2017 G
RYR3     1-0290-003chr15:
33904711-33904711
GAintronicDe novo--Yuen2017 G
RYR3     2-1220-003chr15:
34156282-34156282
TGintronicDe novo--Yuen2017 G
RYR3     1-0935-003chr15:
33952539-33952539
GAexonicDe novononsynonymous SNVNM_001036
NM_001243996
c.G4537A
c.G4537A
p.E1513K
p.E1513K
9.888-Yuen2017 G
RYR3     AU2089302chr15:
34045496-34045497
GTGintronicDe novo--Yuen2017 G
RYR3     2-1369-003chr15:
33668770-33668770
ATintronicDe novo--Yuen2016 G
Yuen2017 G
RYR3     5-0084-003chr15:
34120276-34120276
CTintronicDe novo--Yuen2017 G
RYR3     AU2293302chr15:
33703111-33703111
GAintronicDe novo--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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