Variant Results

or

or

Results for "RGS22"

Variant Events: 24

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

RGS22

5-0025-004

chr8:
101045024-101045024

C

A

intronic

De novo

-

-

Yuen2017 G

RGS22

AU039305

chr8:
101059035-101059035

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RGS22

iHART2999

chr8:
101018316-101018316

G

A

exonic

Maternal

stopgain

NM_001286693
NM_001286692
NM_015668

c.C1840T
c.C2347T
c.C2383T

p.R614X
p.R783X
p.R795X

45.0

-

Ruzzo2019 G

RGS22

12063.p1

chr8:
101052158-101052158

A

T

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

RGS22

mAGRE2999

chr8:
101018316-101018316

G

A

exonic

Maternal

stopgain

NM_001286693
NM_001286692
NM_015668

c.C1840T
c.C2347T
c.C2383T

p.R614X
p.R783X
p.R795X

45.0

-

Cirnigliaro2023 G

RGS22

REACH000089

chr8:
101077040-101077040

T

C

intronic

De novo

-

-

Trost2022 G

RGS22

3-0775-000

chr8:
101086953-101086953

G

A

intronic

De novo

-

-

Trost2022 G

RGS22

AU053503

chr8:
101112825-101112825

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RGS22

2-1174-006

chr8:
101051509-101051516

GTTAACAG

A

intronic

De novo

-

-

Trost2022 G

RGS22

1-0627-004

chr8:
101014731-101014731

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RGS22

MSSNG00183-003

chr8:
101073831-101073831

T

C

intronic

De novo

-

-

Trost2022 G

RGS22

7-0226-003

chr8:
101051494-101051505

ATGGTAAGTATT

GA

intronic

De novo

-

-

Trost2022 G

RGS22

1-0582-003

chr8:
101137874-101137874

C

A

intergenic

De novo

-

-

Yuen2017 G

RGS22

2-1183-003

chr8:
101009288-101009288

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RGS22

2-1174-006

chr8:
101051494-101051505

ATGGTAAGTATT

GA

intronic

De novo

-

-

Trost2022 G

RGS22

AU2288301

chr8:
101041946-101041946

A

G

intronic

De novo

-

-

Trost2022 G

RGS22

4-0062-003

chr8:
101112400-101112402

CTA

TAT

intronic

De novo

-

-

Trost2022 G

RGS22

AU4410302

chr8:
101135893-101135893

T

C

intergenic

De novo

-

-

Yuen2017 G

RGS22

4-0073-003

chr8:
101112400-101112401

CT

TA

intronic

De novo

-

-

Trost2022 G

RGS22

4-0077-003

chr8:
101112400-101112402

CTA

TAT

intronic

De novo

-

-

Trost2022 G

RGS22

13593.p1

chr8:
100990260-100990260

C

A

exonic

De novo

nonsynonymous SNV

NM_001286693
NM_001286692
NM_015668

c.G2861T
c.G3368T
c.G3404T

p.C954F
p.C1123F
p.C1135F

15.73

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RGS22

5-0014-004

chr8:
101045024-101045024

C

A

intronic

De novo

-

-

Yuen2017 G

RGS22

5003

chr8:
100990260-100990260

C

A

exonic

De novo

nonsynonymous SNV

NM_001286693
NM_001286692
NM_015668

c.G2861T
c.G3368T
c.G3404T

p.C954F
p.C1123F
p.C1135F

15.73

-

Fu2022 E
Trost2022 G

RGS22

2-1416-004

chr8:
101045024-101045024

C

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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