Variant Results

or

Results for "RYR2"

Variant Events: 50

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

RYR2

2-1567-004

chr1:
237389566-237389566

C

T

intronic

De novo

-

Yuen2017 G

RYR2

AU071804

chr1:
237456654-237456654

G

A

intronic

De novo

-

Yuen2017 G

RYR2

AU4215302

chr1:
237903974-237903974

A

G

intronic

De novo

-

Yuen2017 G

RYR2

2-0158-003

chr1:
238002848-238002848

A

G

intergenic

De novo

-

Yuen2017 G

RYR2

1-0458-004

chr1:
237679033-237679033

C

CTGTTG

intronic

De novo

-

Yuen2017 G

RYR2

7-0067-003

chr1:
237648977-237648977

T

A

intronic

De novo

-

Yuen2017 G

RYR2

AU3846303

chr1:
237443617-237443617

C

T

intronic

De novo

-

Yuen2017 G

RYR2

iHART2855

chr1:
237666806-237666806

G

A

splicing

Paternal

splicing

27.8

-

Ruzzo2019 G

RYR2

2-1581-003

chr1:
237895609-237895609

C

A

intronic

De novo

-

Yuen2017 G

RYR2

1946-23968

chr1:
237659974-237659974

G

A

exonic

Inherited

nonsynonymous SNV

NM_001035

c.G2125A

p.G709R

35.0

-

Callaghan2019 G

RYR2

2-0110-003

chr1:
237332677-237332677

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RYR2

iHART2856

chr1:
237666806-237666806

G

A

splicing

Paternal

splicing

27.8

-

Ruzzo2019 G

RYR2

1-0320-004

chr1:
237918758-237918758

C

T

intronic

De novo

-

Yuen2017 G

RYR2

11C119398

chr1:
237865361-237865361

T

A

splicing

De novo

splicing

19.88

-

Fu2022 E
Satterstrom2020 E

RYR2

AU2140306

chr1:
237247196-237247196

A

T

intronic

De novo

-

Yuen2017 G

RYR2

SMHC01638s000

chr1:
237433903-237433903

C

A

exonic

De novo

nonsynonymous SNV

NM_001035

c.C155A

p.T52N

18.0

-

Yuan2023 E

RYR2

13894.p1

chr1:
237880456-237880456

G

A

intronic

De novo

-

Satterstrom2020 E

RYR2

DEASD_0115_001

chr1:
237870440-237870440

C

A

exonic

De novo

nonsynonymous SNV

NM_001035

c.C9772A

p.P3258T

13.93

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

RYR2

5-0125-003

chr1:
237776993-237776993

T

C

intronic

De novo

-

Yuen2017 G

RYR2

1-0150-003

chr1:
237985370-237985370

G

A

intronic

De novo

-

Yuen2017 G

RYR2

722-04-103059

chr1:
237850735-237850736

TG

T

intronic

De novo

-

Satterstrom2020 E

RYR2

AU3912303

chr1:
237270095-237270095

C

T

intronic

De novo

-

Yuen2017 G

RYR2

AU3368303

chr1:
237661806-237661806

A

G

intronic

De novo

-

Yuen2017 G

RYR2

13958.p1

chr1:
237666734-237666734

C

T

exonic

De novo

nonsynonymous SNV

NM_001035

c.C2542T

p.R848C

16.38

8.283E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

RYR2

11042.p1

chr1:
237823274-237823275

CT

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

RYR2

AU058105

chr1:
237399931-237399931

A

C

intronic

De novo

-

Yuen2017 G

RYR2

AU3786301

chr1:
237882036-237882036

G

A

intronic

De novo

-

Yuen2017 G

RYR2

1-0259-005

chr1:
237471626-237471626

T

C

intronic

De novo

-

Yuen2017 G

RYR2

AU4234303

chr1:
237235217-237235217

C

T

intronic

De novo

-

Yuen2017 G

RYR2

2-0307-004

chr1:
237442528-237442528

G

C

intronic

De novo

-

Yuen2017 G

RYR2

AU2129303

chr1:
237301912-237301912

T

A

intronic

De novo

-

Yuen2017 G

RYR2

AU2988303

chr1:
237879507-237879512

TAAAAA

TAAA

intronic

De novo

-

Yuen2017 G

RYR2

AU066818

chr1:
237568489-237568489

A

G

intronic

De novo

-

Yuen2017 G

RYR2

1-0051-004

chr1:
237954798-237954798

A

C

exonic

De novo

nonsynonymous SNV

NM_001035

c.A13546C

p.I4516L

17.13

-

Yuen2017 G

RYR2

AU2793302

chr1:
237916270-237916270

T

A

intronic

De novo

-

Yuen2017 G

RYR2

AU3368302

chr1:
237683815-237683815

C

T

intronic

De novo

-

Yuen2017 G

RYR2

A17

chr1:
237343785-237343785

A

C

intronic

De novo

-

Wu2018 G

RYR2

13958_p1

chr1:
237666734-237666734

C

T

exonic

De novo

nonsynonymous SNV

NM_001035

c.C2542T

p.R848C

16.38

8.283E-6

Fu2022 E

RYR2

10C109049

chr1:
237872378-237872378

T

G

exonic

De novo

nonsynonymous SNV

NM_001035

c.T10122G

p.I3374M

15.54

-

Fu2022 E

RYR2

1-0383-003

chr1:
237589033-237589050

TGAGGAGGAGGAGGAGGA

TGAGGAGGAGGAGGA

intronic

De novo

-

Yuen2017 G

RYR2

AU027506

chr1:
237590350-237590350

C

T

intronic

De novo

-

Yuen2017 G

RYR2

1-0579-003

chr1:
237795093-237795093

A

C

intronic

De novo

-

Yuen2017 G

RYR2

1-0965-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

RYR2

1-0751-003

chr1:
237631366-237631366

G

A

intronic

De novo

-

Yuen2017 G

RYR2

1-0373-003

chr1:
237398985-237398985

G

C

intronic

De novo

-

Yuen2017 G

RYR2

AU2793301

chr1:
237689954-237689954

C

T

intronic

De novo

-

Yuen2017 G

RYR2

2-1577-003

chr1:
237965419-237965419

A

G

intronic

De novo

-

Yuen2017 G

RYR2

AU3794302

chr1:
237492203-237492203

C

T

intronic

De novo

-

Yuen2017 G

RYR2

1-0389-004

chr1:
237522812-237522812

C

A

intronic

De novo

-

Yuen2017 G

RYR2

AU2988302

chr1:
237879507-237879512

TAAAAA

TAAA

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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