Variant Results

or

Results for "RIMBP2"

Variant Events: 52

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

RIMBP2

1-0191-004

chr12:
131038264-131038264

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU2381302

chr12:
131086476-131086476

A

G

intergenic

De novo

-

Yuen2017 G

RIMBP2

1-0652-003

chr12:
131140587-131140587

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

09C80376

chr12:
130912840-130912840

G

A

exonic

Unknown

nonsynonymous SNV

NM_015347

c.C2245T

p.R749W

21.6

1.653E-5

Stessman2017 T

RIMBP2

AU038203

chr12:
131075895-131075899

CAGAG

CAG

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU072505

chr12:
130968624-130968624

C

T

intronic

De novo

-

Yuen2017 G

RIMBP2

1-0303-003

chr12:
131144375-131144375

C

T

intergenic

De novo

-

Yuen2017 G

RIMBP2

2-0242-003

chr12:
131144345-131144345

T

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

2-1223-003

chr12:
131179006-131179006

T

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU4069302

chr12:
131208285-131208285

C

T

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU060403

chr12:
130931885-130931885

G

A

intronic

De novo

-

Yuen2017 G

RIMBP2

2-1702-003

chr12:
131148952-131148952

G

GCACACA

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU4145301

chr12:
131178308-131178308

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

1-0259-003

chr12:
131144375-131144375

C

T

intergenic

De novo

-

Yuen2017 G

RIMBP2

2-1089-004

chr12:
131087489-131087489

C

T

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU056005

chr12:
131238531-131238531

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

1-0300-004

chr12:
130883372-130883372

C

CAGTT

UTR3

De novo

-

Yuen2017 G

RIMBP2

5-0017-004

chr12:
131144505-131144507

CAA

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

2-1206-003

chr12:
131195910-131195910

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RIMBP2

2-1174-005B

chr12:
131144345-131144345

T

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU072905

chr12:
131078126-131078126

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

7-0095-004

chr12:
130938326-130938326

C

CCTACA

intronic

De novo

-

Yuen2017 G

RIMBP2

AU2711303

chr12:
131086615-131086615

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU3891302

chr12:
131130896-131130896

C

T

intergenic

De novo

-

Yuen2017 G

RIMBP2

3-0482-000

chr12:
131221481-131221481

C

G

intergenic

De novo

-

Yuen2017 G

RIMBP2

12529.p1

chr12:
130922889-130922889

A

C

intronic

De novo

-

0.0056

Turner2016 G

RIMBP2

14637.p1

chr12:
130944737-130944737

C

T

intronic

De novo

-

Turner2016 G

RIMBP2

217-14163-2670

chr12:
130935770-130935771

GG

G

exonic

Inherited

frameshift deletion

NM_015347

c.422delC

p.S141fs

-

Stessman2017 T

RIMBP2

1-0567-003

chr12:
131144345-131144345

T

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

2-1374-003

chr12:
130971731-130971731

C

T

intronic

De novo

-

Yuen2017 G

RIMBP2

1-0563-004

chr12:
131109076-131109076

A

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

1-0300-003

chr12:
130883372-130883372

C

CAGTT

UTR3

De novo

-

Yuen2017 G

RIMBP2

2-0145-004

chr12:
131144375-131144375

C

T

intergenic

De novo

-

Yuen2017 G

RIMBP2

1-0325-003

chr12:
130918123-130918123

A

G

intronic

De novo

-

Yuen2017 G

RIMBP2

13169.p1

chr12:
131070869-131070870

CA

TG

intergenic

Maternal

-

Wilfert2021 G

RIMBP2

M30369

chr12:
130941203-130941203

C

T

exonic

Paternal

nonsynonymous SNV

NM_015347

c.G145A

p.E49K

35.0

-

Guo2018 T

RIMBP2

AU2029303

chr12:
130892954-130892954

T

C

intronic

De novo

-

Yuen2017 G

RIMBP2

AU2975302

chr12:
130950138-130950138

G

A

intronic

De novo

-

Yuen2017 G

RIMBP2

AU072904

chr12:
131078126-131078126

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU3712301

chr12:
131090539-131090539

G

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

217-14377-4900

chr12:
130941163-130941163

C

T

exonic

Maternal

nonsynonymous SNV

NM_015347

c.G185A

p.R62Q

35.0

1.67E-5

Stessman2017 T

RIMBP2

AU2100302

chr12:
131118817-131118817

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

09C96615

chr12:
130921471-130921471

T

G

exonic

De novo

synonymous SNV

NM_015347

c.A1971C

p.P657P

-

Fu2022 E

RIMBP2

08C77810

chr12:
130935769-130935770

CG

C

exonic

De novo

frameshift deletion

NM_015347

c.423delC

p.S141fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

RIMBP2

1-0279-004

chr12:
131204974-131204974

C

CCAG

intergenic

De novo

-

Yuen2017 G

RIMBP2

2-1325-003

chr12:
131210372-131210373

CT

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RIMBP2

2-1522-003

chr12:
131113929-131113929

G

A

intergenic

De novo

-

Yuen2017 G

RIMBP2

1-0455-003

chr12:
131053347-131053347

G

T

intergenic

De novo

-

Yuen2017 G

RIMBP2

14410.p1

chr12:
130912880-130912880

C

T

exonic

De novo

synonymous SNV

NM_015347

c.G2205A

p.P735P

-

1.685E-5

Krumm2015 E

RIMBP2

2-1094-004

chr12:
131144345-131144345

T

C

intergenic

De novo

-

Yuen2017 G

RIMBP2

AU2129303

chr12:
130968975-130968975

G

A

intronic

De novo

-

Yuen2017 G

RIMBP2

AU2029302

chr12:
130892954-130892954

T

C

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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