Variant Results

or

Results for "RYR1"

Variant Events: 33

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.p1

chr19:
39077208-39077208

A

G

exonic

De novo

nonsynonymous SNV

NM_001042723
NM_000540

c.A14998G
c.A15013G

p.T5000A
p.T5005A

14.19

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

RYR1

SP0025824

chr19:
38958237-38958237

G

C

intronic

De novo

-

Fu2022 E

RYR1

SP0020473

chr19:
38990294-38990294

C

T

exonic

De novo

synonymous SNV

NM_000540
NM_001042723

c.C7047T
c.C7047T

p.N2349N
p.N2349N

-

8.659E-6

Fu2022 E

RYR1

13069.p1

chr19:
39000156-39000156

G

A

intronic

De novo

-

Turner2016 G

RYR1

2-1507-003

chr19:
39053171-39053171

C

T

intronic

De novo

-

Yuen2017 G

RYR1

6246

chr19:
39038884-39038884

A

G

exonic

De novo

nonsynonymous SNV

NM_001042723
NM_000540

c.A12091G
c.A12106G

p.N4031D
p.N4036D

14.79

-

Fu2022 E

RYR1

127-09-111080

chr19:
38991635-38991635

G

A

intronic

De novo

-

Fu2022 E
Satterstrom2020 E

RYR1

13464_p1

chr19:
39019316-39019316

G

A

exonic

De novo

nonsynonymous SNV

NM_001042723
NM_000540

c.G11000A
c.G11015A

p.R3667H
p.R3672H

13.43

8.254E-6

Fu2022 E

RYR1

14403_p1

chr19:
38954113-38954113

C

T

exonic

De novo

synonymous SNV

NM_000540
NM_001042723

c.C2628T
c.C2628T

p.N876N
p.N876N

-

Fu2022 E

RYR1

1-0246-005

chr19:
39024778-39024778

A

G

intronic

De novo

-

Yuen2017 G

RYR1

AU0257-0202

chr19:
38931409-38931409

A

G

exonic

De novo

nonsynonymous SNV

NM_000540
NM_001042723

c.A70G
c.A70G

p.S24G
p.S24G

9.63

-

Fu2022 E

RYR1

SSC02256

chr19:
39077208-39077208

A

G

exonic

De novo

nonsynonymous SNV

NM_001042723
NM_000540

c.A14998G
c.A15013G

p.T5000A
p.T5005A

14.19

-

Fu2022 E
Lim2017 E

RYR1

AU03703

chr19:
38956904-38956904

G

A

exonic

De novo

nonsynonymous SNV

NM_000540
NM_001042723

c.G3044A
c.G3044A

p.R1015H
p.R1015H

11.67

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RYR1

1548-22146

chr19:
38949911-38949911

G

A

exonic

Inherited

nonsynonymous SNV

NM_000540
NM_001042723

c.G2293A
c.G2293A

p.G765S
p.G765S

17.93

-

Callaghan2019 G

RYR1

2-1619-003

chr19:
38999179-38999179

C

T

intronic

De novo

-

Yuen2017 G

RYR1

21686-34166

chr19:
38934225-38934225

C

T

exonic

Inherited

nonsynonymous SNV

NM_000540
NM_001042723

c.C298T
c.C298T

p.L100F
p.L100F

15.59

-

Callaghan2019 G

RYR1

G01-GEA-28-HI

chr19:
38954510-38954510

G

A

intronic

De novo

-

1.0E-4

Satterstrom2020 E

RYR1

AU3777301

chr19:
39027001-39027001

A

G

intronic

De novo

-

Yuen2017 G

RYR1

iHART1264

chr19:
39068556-39068556

A

G

splicing

Maternal

splicing

20.2

-

Ruzzo2019 G

RYR1

iHART2549

chr19:
38986970-38986970

G

A

splicing

Maternal

splicing

14.52

8.276E-6

Ruzzo2019 G

RYR1

7-0191-003

chr19:
39010785-39010785

G

C

intronic

De novo

-

Yuen2017 G

RYR1

2-1366-003

chr19:
39037661-39037661

A

G

intronic

De novo

-

Yuen2017 G

RYR1

PN400118

chr19:
38949938-38949938

G

A

exonic

Inherited

nonsynonymous SNV

NM_000540
NM_001042723

c.G2320A
c.G2320A

p.G774R
p.G774R

15.46

3.0E-4

Leblond2019 E

RYR1

08C73996

chr19:
38973634-38973634

G

A

intronic

De novo

-

2.0E-4

Satterstrom2020 E

RYR1

80001100930

chr19:
38948732-38948732

C

T

exonic

De novo

nonsynonymous SNV

NM_000540
NM_001042723

c.C1967T
c.C1967T

p.T656M
p.T656M

13.15

1.652E-5

Fu2022 E
Satterstrom2020 E

RYR1

111300

chr19:
38954069-38954069

C

A

exonic

nonsynonymous SNV

NM_000540
NM_001042723

c.C2584A
c.C2584A

p.L862M
p.L862M

9.582

-

Woodbury-Smith2022 E

RYR1

3-0027-000

chr19:
39025386-39025386

C

T

exonic

De novo

synonymous SNV

NM_001042723
NM_000540

c.C11271T
c.C11286T

p.L3757L
p.L3762L

-

Tammimies2015 E
Yuen2015 G

RYR1

1-0024-003

chr19:
38980356-38980356

C

T

intronic

De novo

-

Yuen2017 G

RYR1

09C84847

chr19:
38997232-38997232

G

C

intronic

De novo

-

Satterstrom2020 E

RYR1

14403.p1

chr19:
38954113-38954113

C

T

exonic

De novo

synonymous SNV

NM_000540
NM_001042723

c.C2628T
c.C2628T

p.N876N
p.N876N

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RYR1

MR_1029_b

chr19:
38937175-38937175

T

G

exonic

De novo

nonsynonymous SNV

NM_000540
NM_001042723

c.T695G
c.T695G

p.I232S
p.I232S

16.83

-

Fu2022 E
Satterstrom2020 E

RYR1

13464.p1

chr19:
39019316-39019316

G

A

exonic

De novo

nonsynonymous SNV

NM_001042723
NM_000540

c.G11000A
c.G11015A

p.R3667H
p.R3672H

13.43

8.254E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

RYR1

12373.p1

chr19:
39038884-39038884

A

G

exonic

De novo

nonsynonymous SNV

NM_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

, -

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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