Variant Results

or

Results for "RGS6"

Variant Events: 46

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

RGS6

12449.p1

chr14:
72974586-72974586

G

A

intronic

De novo

-

Turner2016 G

RGS6

1-0231-004

chr14:
72922835-72922835

G

C

intronic

De novo

-

Yuen2017 G

RGS6

14153.p1

chr14:
72514589-72514589

T

C

intronic

De novo

-

Turner2016 G

RGS6

1-0354-003

chr14:
73022488-73022488

G

GACAT

intronic

De novo

-

Yuen2017 G

RGS6

1-0914-003

chr14:
72585144-72585144

A

T

intronic

De novo

-

Yuen2017 G

RGS6

2-1409-003

chr14:
72475313-72475313

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RGS6

1-0674-003

chr14:
72621708-72621708

G

A

intronic

De novo

-

Yuen2017 G

RGS6

2-0210-005

chr14:
72678941-72678941

C

T

intronic

De novo

-

Yuen2017 G

RGS6

14387.p1

chr14:
72742901-72742901

T

TA

intronic

De novo

-

Krumm2015 E

RGS6

2-1730-003

chr14:
72822128-72822128

C

A

intronic

De novo

-

Yuen2017 G

RGS6

7-0119-003

chr14:
73067387-73067387

A

G

intergenic

De novo

-

Yuen2017 G

RGS6

1-0508-003

chr14:
72744620-72744620

C

T

intronic

De novo

-

Yuen2017 G

RGS6

AU2075301

chr14:
72521655-72521655

T

C

intronic

De novo

-

Yuen2017 G

RGS6

1-0404-003

chr14:
72650936-72650936

C

T

intronic

De novo

-

Yuen2017 G

RGS6

2-1290-004

chr14:
73001063-73001063

G

A

intronic

De novo

-

Yuen2017 G

RGS6

2-1497-003

chr14:
73024789-73024789

G

T

intronic

De novo

-

Yuen2017 G

RGS6

2-1350-003

chr14:
72519021-72519021

A

C

intronic

De novo

-

Yuen2017 G

RGS6

AU3874302

chr14:
72718395-72718395

A

G

intronic

De novo

-

Yuen2017 G

RGS6

2-0102-003

chr14:
72718912-72718912

C

T

intronic

De novo

-

Yuen2017 G

RGS6

AU2495302

chr14:
72754394-72754394

G

A

intronic

De novo

-

Yuen2017 G

RGS6

AU012804

chr14:
72894531-72894531

T

C

intronic

De novo

-

Yuen2017 G

RGS6

AU3984302

chr14:
72401708-72401708

C

T

intronic

De novo

-

Yuen2017 G

RGS6

AU2410302

chr14:
72406835-72406835

C

G

intronic

De novo

-

Yuen2017 G

RGS6

5-0095-003

chr14:
72861318-72861318

C

T

intronic

De novo

-

Yuen2017 G

RGS6

AU3368303

chr14:
72569760-72569760

C

A

intronic

De novo

-

Yuen2017 G

RGS6

63-343

chr14:
72975844-72975844

G

A

intronic

Inherited

-

Michaelson2012 G

RGS6

1-0126-003

chr14:
72533987-72533987

G

A

intronic

De novo

-

Yuen2017 G

RGS6

5-0088-003

chr14:
72763055-72763055

A

T

intronic

De novo

-

Yuen2017 G

RGS6

AU4153301

chr14:
72536516-72536516

C

A

intronic

De novo

-

Yuen2017 G

RGS6

AU4243302

chr14:
72786119-72786119

G

A

intronic

De novo

-

Yuen2017 G

RGS6

1-0354-006

chr14:
73022488-73022488

G

GACAT

intronic

De novo

-

Yuen2017 G

RGS6

AU3371303

chr14:
72414438-72414438

A

G

intronic

De novo

-

Yuen2017 G

RGS6

2-0305-004

chr14:
73078359-73078359

C

G

intergenic

De novo

-

Yuen2017 G

RGS6

1-0304-003

chr14:
73051286-73051286

G

T

intergenic

De novo

-

Yuen2017 G

RGS6

AU3076302

chr14:
72736124-72736124

G

A

intronic

De novo

-

Yuen2017 G

RGS6

AU3635301

chr14:
72846581-72846581

G

A

intronic

De novo

-

Yuen2017 G

RGS6

AU3638302

chr14:
72542602-72542602

C

T

intronic

De novo

-

Yuen2017 G

RGS6

2-0295-004

chr14:
72416579-72416580

TA

T

intronic

De novo

-

Yuen2017 G

RGS6

065-06-105547

chr14:
73007761-73007761

C

T

intronic

De novo

-

1.402E-5

Satterstrom2020 E

RGS6

AU4235302

chr14:
72932330-72932330

G

A

intronic

De novo

-

Yuen2017 G

RGS6

1-0190-003

chr14:
72748053-72748053

C

A

intronic

De novo

-

Yuen2017 G

RGS6

SP0035532

chr14:
72961876-72961876

G

A

exonic

De novo

nonsynonymous SNV

NM_001204423
NM_001204416
NM_001204417
NM_001204418
NM_001204424
NM_004296

c.G766A
c.G871A
c.G871A
c.G871A
c.G871A
c.G871A

p.E256K
p.E291K
p.E291K
p.E291K
p.E291K
p.E291K

22.2

-

Fu2022 E

RGS6

1-0210-004

chr14:
72991196-72991196

A

G

intronic

De novo

-

Yuen2017 G

RGS6

1-0560-003

chr14:
72594234-72594234

C

T

intronic

De novo

-

Yuen2017 G

RGS6

2-1368-003

chr14:
72653013-72653013

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RGS6

SP0121621

chr14:
72976883-72976883

A

T

exonic

De novo

synonymous SNV

NM_001204419
NM_001204420
NM_001204421
NM_001204422
NM_001204423
NM_001204416
NM_001204417
NM_001204418
NM_001204424
NM_004296

c.A876T
c.A876T
c.A876T
c.A876T
c.A882T
c.A987T
c.A987T
c.A987T
c.A987T
c.A987T

p.R292R
p.R292R
p.R292R
p.R292R
p.R294R
p.R329R
p.R329R
p.R329R
p.R329R
p.R329R

-

Fu2022 E

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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