Variant Results

or

Results for "RYR3"

Variant Events: 83

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

2-1276-003

chr15:
33796005-33796005

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RYR3

1-0560-003

chr15:
33843778-33843778

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

1-0299-003

chr15:
33946219-33946232

CCACAGAGCAAACT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

7-0032-003

chr15:
33845590-33845590

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

SP0073768

chr15:
34140594-34140594

C

T

exonic

De novo

stopgain

NM_001243996
NM_001036

c.C13585T
c.C13600T

p.Q4529X
p.Q4534X

56.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

RYR3

11338.p1

chr15:
34040361-34040361

T

C

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.T8036C
c.T8036C

p.M2679T
p.M2679T

21.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

RYR3

1-0079-008

chr15:
33737648-33737648

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

98HI0574A

chr15:
33876670-33876670

G

A

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.G1648A
c.G1648A

p.D550N
p.D550N

34.0

-

Satterstrom2020 E

RYR3

SP0010081

chr15:
33928565-33928565

C

G

intronic

De novo

-

Fu2022 E

RYR3

mAGRE6196

chr15:
34134136-34134140

CAAAA

C

exonic

Paternal

frameshift deletion

NM_001243996
NM_001036

c.13095_13098del
c.13110_13113del

p.T4365fs
p.T4370fs

-

Cirnigliaro2023 G

RYR3

mAGRE1183

chr15:
33999177-33999177

G

T

exonic

Maternal

stopgain

NM_001036
NM_001243996

c.G6541T
c.G6541T

p.G2181X
p.G2181X

49.0

-

Cirnigliaro2023 G

RYR3

Wang2023:408

chr15:
34105154-34105154

C

A

exonic

De novo

nonsynonymous SNV

NM_001243996
NM_001036

c.C10333A
c.C10348A

p.R3445S
p.R3450S

23.4

-

Wang2023 E

RYR3

1-0197-003

chr15:
33988181-33988181

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

MSSNG00444-003

chr15:
33668780-33668780

C

T

intronic

De novo

-

Trost2022 G

RYR3

iHART1183

chr15:
33999177-33999177

G

T

exonic

Maternal

stopgain

NM_001036
NM_001243996

c.G6541T
c.G6541T

p.G2181X
p.G2181X

49.0

-

Ruzzo2019 G

RYR3

1-1222-003

chr15:
33734238-33734238

G

A

intronic

De novo

-

Trost2022 G

RYR3

MT_167.3

chr15:
33662828-33662828

T

G

intronic

De novo

-

Trost2022 G

RYR3

MSSNG00444-003

chr15:
33668158-33668161

GGGA

G

intronic

De novo

-

Trost2022 G

RYR3

Wang2023:419

chr15:
33905545-33905549

TTCCC

T

exonic

De novo

frameshift deletion

NM_001036
NM_001243996

c.2327_2330del
c.2327_2330del

p.F776fs
p.F776fs

-

Wang2023 E

RYR3

7-0485-003

chr15:
33617277-33617277

A

G

intronic

De novo

-

Trost2022 G

RYR3

7-0143-004

chr15:
33662329-33662329

C

A

intronic

De novo

-

Trost2022 G

RYR3

2-1343-003

chr15:
33861221-33861235

TTGTGTGTGTGTGTG

TTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

RYR3

7-0298-003

chr15:
33849609-33849609

C

T

intronic

De novo

-

Trost2022 G

RYR3

AU071204

chr15:
33891210-33891210

C

T

intronic

De novo

-

Trost2022 G

RYR3

5-5123-005

chr15:
33795504-33795504

A

T

intronic

De novo

-

Trost2022 G

RYR3

3-0253-000

chr15:
33830771-33830771

C

T

intronic

De novo

-

Trost2022 G

RYR3

7-0379-003

chr15:
33770938-33770938

C

T

intronic

De novo

-

Trost2022 G

RYR3

1624001

chr15:
33954382-33954382

C

T

exonic

De novo

stopgain

NM_001036
NM_001243996

c.C4651T
c.C4651T

p.Q1551X
p.Q1551X

45.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RYR3

3-0707-000

chr15:
33775988-33775988

A

G

intronic

De novo

-

Trost2022 G

RYR3

PN400260

chr15:
34078175-34078175

G

T

exonic

Unknown

nonsynonymous SNV

NM_001036
NM_001243996

c.G9581T
c.G9581T

p.R3194L
p.R3194L

23.9

-

Leblond2019 E

RYR3

2-0310-004

chr15:
33751139-33751149

CTCATTTATTT

C

intronic

De novo

-

Trost2022 G

RYR3

7-0501-003

chr15:
33755208-33755211

CAAA

C

intronic

De novo

-

Trost2022 G

RYR3

1-0336-003

chr15:
33971364-33971364

C

A

intronic

De novo

-

Trost2022 G

RYR3

3-0832-000

chr15:
33983581-33983581

C

G

intronic

De novo

-

Trost2022 G

RYR3

7-0256-003

chr15:
33612836-33612836

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

MSSNG00387-003

chr15:
33950382-33950382

C

G

intronic

De novo

-

Trost2022 G

RYR3

3-0607-000

chr15:
33971364-33971364

C

A

intronic

De novo

-

Trost2022 G

RYR3

1-0290-003

chr15:
33904711-33904711

G

A

intronic

De novo

-

Yuen2017 G

RYR3

MT_24.3

chr15:
33943701-33943701

A

G

intronic

De novo

-

Trost2022 G

RYR3

1-0299-004

chr15:
33946219-33946232

CCACAGAGCAAACT

C

intronic

De novo

-

Trost2022 G

RYR3

1018

chr15:
33905964-33905964

G

C

intronic

De novo

-

Trost2022 G

RYR3

MSSNG00420-003

chr15:
33926412-33926412

C

G

intronic

De novo

-

Trost2022 G

RYR3

2-1220-003

chr15:
34156282-34156282

T

G

intronic

De novo

-

Yuen2017 G

RYR3

SP0031595

chr15:
34113844-34113844

T

G

intronic

De novo

-

Trost2022 G

RYR3

MSSNG00043-004A

chr15:
34134313-34134313

G

A

intronic

De novo

-

Trost2022 G

RYR3

MSSNG00109-004

chr15:
34091320-34091320

T

C

intronic

De novo

-

Trost2022 G

RYR3

5-0084-003

chr15:
34120276-34120276

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

MSSNG00399-003

chr15:
34108331-34108331

T

C

intronic

De novo

-

Trost2022 G

RYR3

4-0077-003

chr15:
34059556-34059557

TA

AT

intronic

De novo

-

Trost2022 G

RYR3

AU2293302

chr15:
33703111-33703111

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

MSSNG00398-003

chr15:
34083393-34083393

T

C

intronic

De novo

-

Trost2022 G

RYR3

1-1123-003

chr15:
34042628-34042628

C

T

intronic

De novo

-

Trost2022 G

RYR3

1-0634-003

chr15:
34044411-34044411

C

T

intronic

De novo

-

Trost2022 G

RYR3

A9

chr15:
33765969-33765969

T

C

intronic

De novo

-

Wu2018 G

RYR3

MSSNG00021-004

chr15:
34158120-34158120

T

TGTCA

UTR3

De novo

-

Trost2022 G
Trost2022 G

RYR3

SP1704013_27

chr15:
34150020-34150020

C

G

exonic

De novo

nonsynonymous SNV

NM_001243996
NM_001036

c.C14032G
c.C14047G

p.L4678V
p.L4683V

20.9

-

Fu2022 E

RYR3

11089.p1

chr15:
33787858-33787858

G

A

intronic

De novo

-

Turner2016 G

RYR3

SP0189517

chr15:
34145895-34145895

T

G

intronic

De novo

-

Trost2022 G

RYR3

DEASD_0417_001

chr15:
33955026-33955026

A

G

exonic

De novo

synonymous SNV

NM_001036
NM_001243996

c.A5295G
c.A5295G

p.G1765G
p.G1765G

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RYR3

SP0056899

chr15:
34157436-34157436

C

A

UTR3

De novo

-

Trost2022 G
Trost2022 G

RYR3

SP0030013

chr15:
34021195-34021195

C

T

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.C7171T
c.C7171T

p.P2391S
p.P2391S

27.8

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RYR3

AU031003

chr15:
33677782-33677782

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

SP0078295

chr15:
33895601-33895601

A

C

intronic

De novo

-

Fu2022 E

RYR3

SP0035579

chr15:
34094107-34094107

A

G

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.A9956G
c.A9956G

p.N3319S
p.N3319S

24.6

-

Fu2022 E
Zhou2022 GE

RYR3

1-0459-003

chr15:
33875134-33875134

A

G

intronic

De novo

-

Yuen2017 G

RYR3

AU049304

chr15:
34050550-34050550

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

7-0035-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G

RYR3

SSC00051

chr15:
34040361-34040361

T

C

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.T8036C
c.T8036C

p.M2679T
p.M2679T

21.1

-

Fu2022 E
Lim2017 E
Trost2022 G

RYR3

2-0098-003

chr15:
33660111-33660111

G

T

intronic

De novo

-

Yuen2016 G

RYR3

SP0130175

chr15:
34146887-34146887

C

T

intronic

De novo

-

Fu2022 E

RYR3

SP0088904

chr15:
33955188-33955188

T

A

intronic

De novo

-

Fu2022 E

RYR3

B201903

chr15:
33765646-33765646

C

T

exonic

De novo

synonymous SNV

NM_001036
NM_001243996

c.C78T
c.C78T

p.I26I
p.I26I

-

2.485E-5

Fu2022 E

RYR3

SP0038534

chr15:
34023770-34023770

C

T

exonic

synonymous SNV

NM_001036
NM_001243996

c.C7299T
c.C7299T

p.A2433A
p.A2433A

-

1.689E-5

Zhou2022 GE

RYR3

C1628::98HI0574A

chr15:
33876670-33876670

G

A

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.G1648A
c.G1648A

p.D550N
p.D550N

34.0

-

Trost2022 G
Zhou2022 GE

RYR3

SP0140827

chr15:
33831666-33831666

A

C

intronic

-

Zhou2022 GE

RYR3

L7H6W_01

chr15:
33951949-33951949

C

A

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.C4337A
c.C4337A

p.A1446E
p.A1446E

29.0

-

Trost2022 G
Zhou2022 GE

RYR3

MSSNG00245-003

chr15:
33926786-33926786

G

T

splicing

De novo

splicing

28.4

-

Trost2022 G
Zhou2022 GE

RYR3

2-1164-003

chr15:
34101279-34101279

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

RYR3

80001101242

chr15:
34115151-34115151

G

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

RYR3

AU3057302

chr15:
33998142-33998142

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

1-0935-003

chr15:
33952539-33952539

G

A

exonic

De novo

nonsynonymous SNV

NM_001036
NM_001243996

c.G4537A
c.G4537A

p.E1513K
p.E1513K

9.888

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

RYR3

AU2089302

chr15:
34045496-34045497

GT

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR3

2-1369-003

chr15:
33668770-33668770

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
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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