Variant Results

or

Results for "RIMS2"

Variant Events: 45

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

RIMS2

AU3865301

chr8:
104946753-104946753

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

2-1633-003

chr8:
105285438-105285438

T

G

intergenic

De novo

-

Yuen2017 G

RIMS2

AU4176302

chr8:
105132846-105132846

T

C

intronic

De novo

-

Yuen2017 G

RIMS2

1-0139-003

chr8:
105065221-105065221

G

T

intronic

De novo

-

Yuen2017 G

RIMS2

1-0552-003

chr8:
105061441-105061441

G

T

intronic

De novo

-

Yuen2017 G

RIMS2

2-1154-003

chr8:
105128885-105128885

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

08C76385

chr8:
104897656-104897656

C

T

exonic

De novo

stopgain

NM_001282881
NM_014677
NM_001100117

c.C253T
c.C253T
c.C829T

p.R85X
p.R85X
p.R277X

23.4

-

Fu2022 E
Satterstrom2020 E

RIMS2

1-0218-004

chr8:
104529016-104529016

G

A

intronic

De novo

-

Yuen2017 G

RIMS2

AU2000305

chr8:
105271583-105271583

T

C

intergenic

De novo

-

Yuen2017 G

RIMS2

AU070703

chr8:
105248776-105248784

TTACATACA

TTACA

intronic

De novo

-

Yuen2017 G

RIMS2

2-0319-004

chr8:
104968254-104968254

G

C

intronic

De novo

-

Yuen2017 G

RIMS2

AU3125301

chr8:
104908890-104908890

T

C

intronic

De novo

-

Yuen2017 G

RIMS2

SP0016173

chr8:
105161126-105161126

A

G

intronic

De novo

-

Fu2022 E

RIMS2

AU2000302

chr8:
105232180-105232180

G

A

intronic

De novo

-

Yuen2017 G

RIMS2

12086.p1

chr8:
104778570-104778570

G

A

exonic

De novo

nonsynonymous SNV

NM_001100117

c.G503A

p.R168Q

14.1

8.285E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

RIMS2

2-1734-003

chr8:
104940195-104940195

G

A

intronic

De novo

-

Yuen2017 G

RIMS2

200675722@1082034785

chr8:
104831696-104831696

G

T

UTR5

De novo

-

Satterstrom2020 E

RIMS2

2-1487-003

chr8:
104576162-104576162

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

AU2525302

chr8:
104748267-104748267

C

T

intronic

De novo

-

Yuen2017 G

RIMS2

1-0197-004

chr8:
104980788-104980788

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

1-0303-004

chr8:
104754213-104754213

T

C

intronic

De novo

-

Yuen2017 G

RIMS2

AU2711303

chr8:
105082213-105082213

C

T

intronic

De novo

-

Yuen2017 G

RIMS2

AU4269301

chr8:
104981092-104981092

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

1-0551-004

chr8:
105033387-105033387

C

CTTCATCTTT

intronic

De novo

-

Yuen2017 G

RIMS2

7-0167-003

chr8:
104669393-104669396

CTTT

CTTTTT

intronic

De novo

-

Yuen2017 G

RIMS2

1-0484-003

chr8:
104954258-104954258

G

T

intronic

De novo

-

Yuen2017 G

RIMS2

AU030804

chr8:
104935587-104935587

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

09C81777

chr8:
105235947-105235947

G

T

exonic

De novo

nonsynonymous SNV

NM_001282882

c.G68T

p.S23I

15.48

7.466E-5

Fu2022 E

RIMS2

AU3154302

chr8:
105143998-105143998

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

2-0122-004

chr8:
105014662-105014672

TAGATTATCCA

T

intronic

De novo

-

Yuen2017 G

RIMS2

2-0306-004

chr8:
104577762-104577762

G

A

intronic

De novo

-

Yuen2017 G

RIMS2

1-0209-003

chr8:
104889070-104889070

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

5915

chr8:
104778570-104778570

G

A

exonic

De novo

nonsynonymous SNV

NM_001100117

c.G503A

p.R168Q

14.1

8.285E-6

Fu2022 E

RIMS2

1-0559-003

chr8:
104953370-104953370

G

A

intronic

De novo

-

Yuen2017 G

RIMS2

1-0706-003

chr8:
104551015-104551015

A

C

intronic

De novo

-

Yuen2017 G

RIMS2

2-1300-003

chr8:
104702743-104702743

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RIMS2

2-1341-003

chr8:
104868227-104868227

G

A

intronic

De novo

-

Yuen2017 G

RIMS2

2-0306-003

chr8:
104577762-104577762

G

A

intronic

De novo

-

Yuen2016 G

RIMS2

AU0452303

chr8:
105001947-105001947

G

C

intronic

De novo

-

Yuen2017 G

RIMS2

1-0285-004

chr8:
104601209-104601209

A

C

intronic

De novo

-

Yuen2017 G

RIMS2

1-0346-004

chr8:
104990588-104990588

T

TTC

intronic

De novo

-

Yuen2017 G

RIMS2

AU3175302

chr8:
104743242-104743250

AAGAGAGAG

AAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

RIMS2

2-1281-003

chr8:
105011464-105011464

A

T

intronic

De novo

-

Yuen2017 G

RIMS2

1-0051-004

chr8:
104699610-104699610

A

G

intronic

De novo

-

Yuen2017 G

RIMS2

AU3912302

chr8:
104529806-104529806

G

T

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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