Variant Results

or

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

A9

chr15:
33765969-33765969

T

C

intronic

De novo

-

Wu2018 G

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

-

Yuen2017 G

RYR3

1-0299-003

chr15:
33946219-33946232

CCACAGAGCAAACT

C

intronic

De novo

-

Yuen2017 G

RYR3

7-0032-003

chr15:
33845590-33845590

C

T

intronic

De novo

-

Yuen2017 G

RYR3

11089.p1

chr15:
33787858-33787858

G

A

intronic

De novo

-

Turner2016 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
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RYR3

AU031003

chr15:
33677782-33677782

G

T

intronic

De novo

-

Yuen2017 G

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

RYR3

1-0079-008

chr15:
33737648-33737648

C

T

intronic

De novo

-

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

1-0459-003

chr15:
33875134-33875134

A

G

intronic

De novo

-

Yuen2017 G

RYR3

AU049304

chr15:
34050550-34050550

G

T

intronic

De novo

-

Yuen2017 G

RYR3

7-0035-003

Complex Event; expand row to view variants

De novo

-

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

-

Lim2017 E

RYR3

2-0098-003

chr15:
33660111-33660111

G

T

intronic

De novo

-

Yuen2016 G

RYR3

1-0197-003

chr15:
33988181-33988181

C

A

intronic

De novo

-

Yuen2017 G

RYR3

2-1164-003

chr15:
34101279-34101279

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 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

80001101242

chr15:
34115151-34115151

G

T

intronic

De novo

-

Satterstrom2020 E

RYR3

2-1343-003

chr15:
33861221-33861235

TTGTGTGTGTGTGTG

TTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 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

-

Satterstrom2020 E

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

AU3057302

chr15:
33998142-33998142

A

G

intronic

De novo

-

Yuen2017 G

RYR3

7-0256-003

chr15:
33612836-33612836

A

G

intronic

De novo

-

Yuen2017 G

RYR3

1-0290-003

chr15:
33904711-33904711

G

A

intronic

De novo

-

Yuen2017 G

RYR3

2-1220-003

chr15:
34156282-34156282

T

G

intronic

De novo

-

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

-

Yuen2017 G

RYR3

AU2089302

chr15:
34045496-34045497

GT

G

intronic

De novo

-

Yuen2017 G

RYR3

2-1369-003

chr15:
33668770-33668770

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RYR3

5-0084-003

chr15:
34120276-34120276

C

T

intronic

De novo

-

Yuen2017 G

RYR3

AU2293302

chr15:
33703111-33703111

G

A

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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