Variant Results

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Results for "RGS12"

Variant Events: 16

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

RGS12

AU3727302

chr4:
3346607-3346607

C

T

intronic

De novo

-

-

Yuen2017 G

RGS12

DEASD_0098_001

chr4:
3441281-3441281

G

A

exonic

De novo

nonsynonymous SNV

NM_198227
NM_198229

c.G2270A
c.G4214A

p.G757E
p.G1405E

11.02

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RGS12

AU060403

chr4:
3376988-3376991

GCCC

GCC

intronic

De novo

-

-

Yuen2017 G

RGS12

1-0367-003

chr4:
3387812-3387812

G

A

intronic

De novo

-

-

Yuen2017 G

RGS12

AU011021

chr4:
3408373-3408373

A

G

intronic

De novo

-

-

Yuen2017 G

RGS12

2-1005-003

chr4:
3429176-3429176

G

A

intronic

De novo

-

-

Yuen2017 G

RGS12

2-1094-004

chr4:
3389530-3389530

G

A

intronic

De novo

-

-

Yuen2017 G

RGS12

1-0447-003

chr4:
3319880-3319880

T

G

intronic

De novo

-

-

Yuen2017 G

RGS12

2-0144-004

chr4:
3424359-3424359

C

CCAGAA

intronic

De novo

-

-

Yuen2017 G

RGS12

SP0052446

chr4:
3432961-3432961

C

T

UTR3

De novo

-

-

Fu2022 E

RGS12

2-1741-003

chr4:
3405051-3405051

A

G

intronic

De novo

-

-

Yuen2017 G

RGS12

5-0033-004

chr4:
3395557-3395557

A

ACT

intronic

De novo

-

-

Yuen2017 G

RGS12

SP0021010

chr4:
3432948-3432948

G

A

UTR3

De novo

-

-

Fu2022 E

RGS12

SP0027493

chr4:
3372094-3372094

A

ATCAAAC

intronic

De novo

-

Fu2022 E

RGS12

3-0178-000

chr4:
3317988-3317988

G

C

exonic

De novo

nonsynonymous SNV

NM_002926
NM_198229

c.G91C
c.G91C

p.G31R
p.G31R

18.19

-

Tammimies2015 E

RGS12

TRE_1687

chr4:
3319012-3319012

G

A

exonic

De novo

nonsynonymous SNV

NM_002926
NM_198229

c.G1115A
c.G1115A

p.C372Y
p.C372Y

23.4

-

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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