Variant Results

or

Results for "LRP1B"

Variant Events: 125

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

LRP1B

AU2108302

chr2:
143074981-143074981

G

A

intergenic

De novo

-

Yuen2017 G

LRP1B

AU008505

chr2:
141456328-141456328

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

AU4024303

chr2:
142771139-142771139

A

T

intronic

De novo

-

Yuen2017 G

LRP1B

A18

chr2:
142586519-142586519

C

T

intronic

De novo

-

Wu2018 G

LRP1B

AU4150301

chr2:
142917727-142917727

A

T

intergenic

De novo

-

Yuen2017 G

LRP1B

P1225

chr2:
141609318-141609318

G

A

exonic

De novo

synonymous SNV

NM_018557

c.C4614T

p.G1538G

-

Hashimoto2016 E

LRP1B

12026.p1

chr2:
141812731-141812731

G

A

exonic

Mosaic Mat.

synonymous SNV

NM_018557

c.C1506T

p.R502R

-

Dou2017 E

LRP1B

A18

chr2:
142588059-142588059

C

T

intronic

De novo

-

Wu2018 G

LRP1B

2-0012-004

chr2:
141348790-141348790

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

A26

chr2:
143620099-143620099

C

T

intergenic

De novo

-

Wu2018 G

LRP1B

AU4186302

chr2:
142301941-142301942

TC

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU4173301

chr2:
142522503-142522503

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

AU3782302

chr2:
142845319-142845319

C

A

intronic

De novo

-

Yuen2017 G

LRP1B

1-0125-003

chr2:
142476674-142476674

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

1-0382-003

chr2:
141887153-141887153

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU3811305

chr2:
141494052-141494052

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

14496.p1

chr2:
141554177-141554177

A

G

intronic

De novo

-

Turner2016 G

LRP1B

1-0299-004

chr2:
142903744-142903744

A

C

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0530-003

chr2:
141424599-141424599

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRP1B

11002.p1

chr2:
142233324-142233324

C

T

intronic

De novo

-

Turner2016 G

LRP1B

11002.p1

chr2:
143121720-143121720

A

C

intergenic

De novo

-

Turner2016 G

LRP1B

AU017304

chr2:
143498840-143498840

C

T

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0636-003

chr2:
141151222-141151246

CAATAAATAAATAAATAAATAAATA

CAATAAATAAATAAATAAATA

intronic

De novo

-

Yuen2017 G

LRP1B

2-1112-003

chr2:
142484307-142484307

A

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU058105

chr2:
143217723-143217723

G

C

intergenic

De novo

-

Yuen2017 G

LRP1B

2-1212-003

chr2:
141206250-141206250

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

SP0040277

chr2:
141528518-141528518

G

C

exonic

De novo

nonsynonymous SNV

NM_018557

c.C5558G

p.S1853C

28.0

-

Fu2022 E

LRP1B

SP0068381

chr2:
141283904-141283904

G

A

exonic

De novo

nonsynonymous SNV

NM_018557

c.C7778T

p.T2593M

12.86

3.33E-5

Fu2022 E

LRP1B

1-0935-003

chr2:
143170737-143170737

A

G

intergenic

De novo

-

Yuen2017 G

LRP1B

5-0003-003

chr2:
142713334-142713334

C

A

intronic

De novo

-

Yuen2017 G

LRP1B

2-1454-003

chr2:
141598094-141598094

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

1-0554-003

chr2:
143574202-143574202

T

G

intergenic

De novo

-

Yuen2017 G

LRP1B

2-1620-003

chr2:
142906135-142906135

G

C

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0277-003

chr2:
141928045-141928045

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRP1B

SP0095463

chr2:
141625477-141625477

A

C

intronic

De novo

-

Fu2022 E

LRP1B

SP0078245

chr2:
141122181-141122181

T

G

intronic

De novo

-

Fu2022 E

LRP1B

AU4231301

chr2:
142996126-142996126

G

T

intergenic

De novo

-

Yuen2017 G

LRP1B

AU3900302

chr2:
142379652-142379652

G

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU4372309

chr2:
141080488-141080488

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

SP0086531

chr2:
141707995-141707995

G

T

intronic

De novo

-

Fu2022 E

LRP1B

AU1542301

chr2:
142825401-142825401

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

11977.p1

chr2:
141093437-141093437

T

C

intronic

De novo

-

Satterstrom2020 E

LRP1B

AU000704

chr2:
142960194-142960194

T

G

intergenic

De novo

-

Yuen2017 G

LRP1B

AU031404

chr2:
142447213-142447214

CA

C

intronic

De novo

-

Yuen2017 G

LRP1B

2-0057-004

chr2:
142171641-142171641

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU3645301

chr2:
143459816-143459816

T

C

intergenic

De novo

-

Yuen2017 G

LRP1B

AU2988303

chr2:
143595487-143595487

C

T

intergenic

De novo

-

Yuen2017 G

LRP1B

AU3125301

chr2:
142465368-142465368

G

A

intronic

De novo

-

Yuen2017 G

LRP1B

1-0274-004

chr2:
142034294-142034294

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

7-0127-003

chr2:
141266555-141266555

G

A

intronic

De novo

-

Yuen2017 G

LRP1B

5-0055-004

chr2:
141989223-141989223

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

2-1169-003

chr2:
141266418-141266418

C

G

intronic

De novo

-

Yuen2017 G

LRP1B

5-0055-004

chr2:
142576307-142576307

G

A

intronic

De novo

-

Yuen2017 G

LRP1B

5-0018-003

chr2:
141245224-141245224

G

A

exonic

De novo

nonsynonymous SNV

NM_018557

c.C9205T

p.R3069C

20.1

1.655E-5

Yuen2017 G

LRP1B

AU3912302

chr2:
142367828-142367829

TA

TAA

intronic

De novo

-

Yuen2017 G

LRP1B

1-0918-003

chr2:
141779257-141779261

CTTTT

CTT

intronic

De novo

-

Yuen2017 G

LRP1B

5-0128-003

chr2:
142694528-142694528

G

C

intronic

De novo

-

Yuen2017 G

LRP1B

AU055004

chr2:
141585465-141585477

GAGCTCCAATTCA

GA

intronic

De novo

-

Yuen2017 G

LRP1B

1-0485-003

chr2:
142808222-142808222

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

1-0161-003

chr2:
143620700-143620700

T

C

intergenic

De novo

-

Yuen2017 G

LRP1B

2-1461-003

chr2:
142245141-142245141

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRP1B

1-0559-004

chr2:
143559865-143559865

G

GAT

intergenic

De novo

-

Yuen2017 G

LRP1B

2-1251-003

chr2:
141449882-141449882

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

5-0050-003

chr2:
141742359-141742364

GTTCTA

G

intronic

De novo

-

Yuen2017 G

LRP1B

AU4027306

chr2:
141057459-141057459

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU3857301

chr2:
141737197-141737197

G

A

intronic

De novo

-

Yuen2017 G

LRP1B

1-0373-003

chr2:
143270155-143270155

G

A

intergenic

De novo

-

Yuen2017 G

LRP1B

2-0116-005

chr2:
143198260-143198260

A

G

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0300-003

chr2:
141179957-141179957

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

1-0572-003

chr2:
142306767-142306767

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

AU4188302

chr2:
143283088-143283088

C

T

intergenic

De novo

-

Yuen2017 G

LRP1B

11459.p1

chr2:
141291600-141291600

T

C

exonic

Mosaic

synonymous SNV

NM_018557

c.A7752G

p.L2584L

-

Dou2017 E
Krupp2017 E

LRP1B

AU3154301

chr2:
142362935-142362935

G

A

intronic

De novo

-

Yuen2017 G

LRP1B

AU3634301

chr2:
143545759-143545759

G

A

intergenic

De novo

-

Yuen2017 G

LRP1B

AU3057301

chr2:
141876373-141876373

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

1-0006-003

chr2:
141779287-141779287

A

AT

intronic

De novo

-

Yuen2017 G

LRP1B

AU1987302

chr2:
141528712-141528712

G

A

intronic

De novo

-

Yuen2017 G

LRP1B

2-1480-003

chr2:
141906763-141906764

TG

T

intronic

De novo

-

Yuen2017 G

LRP1B

2-1345-003

chr2:
142163904-142163904

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRP1B

2-0208-004

chr2:
141720134-141720134

G

GCTCCTCTTCAGA

intronic

De novo

-

Yuen2017 G

LRP1B

2-1146-003

chr2:
141595275-141595275

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU4273304

chr2:
141567017-141567017

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

1-0638-003

chr2:
142270214-142270214

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

2-0208-004

chr2:
143237802-143237802

C

T

intergenic

De novo

-

Yuen2017 G

LRP1B

2-0182-003

chr2:
142790627-142790627

C

A

intronic

De novo

-

Yuen2017 G

LRP1B

1-0210-004

chr2:
141735636-141735636

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

AU3610302

chr2:
143364441-143364441

A

G

intergenic

De novo

-

Yuen2017 G

LRP1B

2-1338-003

chr2:
143490534-143490534

C

G

intergenic

De novo

-

Yuen2017 G

LRP1B

2-1455-003

chr2:
142278851-142278851

A

G

intronic

De novo

-

Yuen2016 G

LRP1B

2-1338-003

chr2:
142880293-142880293

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

2-1094-005

chr2:
143020418-143020418

A

G

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0656-003

chr2:
143314582-143314582

G

A

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0024-003

chr2:
143407052-143407052

A

G

intergenic

De novo

-

Yuen2017 G

LRP1B

2-0704-003

chr2:
142926730-142926730

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRP1B

5-0129-003

chr2:
143580017-143580017

A

T

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0912-003

chr2:
142127452-142127452

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

AU060703

chr2:
143413224-143413226

CAT

C

intergenic

De novo

-

Yuen2017 G

LRP1B

PN400484

chr2:
141812787-141812788

CT

C

exonic

Unknown

frameshift deletion

NM_018557

c.1449delA

p.P483fs

-

Leblond2019 E

LRP1B

AU2495301

chr2:
141652997-141652997

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

A218803

chr2:
141128301-141128301

A

G

exonic

De novo

synonymous SNV

NM_018557

c.T10986C

p.S3662S

-

Fu2022 E

LRP1B

DEASD_2002_002

chr2:
141200135-141200135

G

A

exonic

De novo

nonsynonymous SNV

NM_018557

c.C10352T

p.S3451F

33.0

-

Fu2022 E

LRP1B

AU3861301

chr2:
142808393-142808393

A

C

intronic

De novo

-

Yuen2017 G

LRP1B

AU3779304

chr2:
141208137-141208137

G

A

exonic

De novo

nonsynonymous SNV

NM_018557

c.C10057T

p.P3353S

28.8

2.478E-5

Yuen2017 G

LRP1B

1-0139-003

chr2:
142948743-142948743

G

A

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0321-004

chr2:
142946790-142946791

GC

G

intergenic

De novo

-

Yuen2017 G

LRP1B

AU4250301

chr2:
141276433-141276433

C

T

intronic

De novo

-

Yuen2017 G

LRP1B

AU2793302

chr2:
142038923-142038923

G

C

intronic

De novo

-

Yuen2017 G

LRP1B

1-0345-003

chr2:
142946779-142946781

CCT

C

intergenic

De novo

-

Yuen2017 G

LRP1B

1-0991-003

chr2:
141095206-141095206

G

A

intronic

De novo

-

Yuen2017 G

LRP1B

2-1178-003

chr2:
143254109-143254109

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRP1B

1-0518-003

chr2:
141587070-141587070

T

A

intronic

De novo

-

Yuen2017 G

LRP1B

1-0383-003

chr2:
141848980-141848980

C

G

intronic

De novo

-

Yuen2017 G

LRP1B

A32

chr2:
142409188-142409188

C

T

intronic

De novo

-

Wu2018 G

LRP1B

1-0274-003

chr2:
142034294-142034294

T

C

intronic

De novo

-

Yuen2017 G

LRP1B

7-0174-003

chr2:
141092773-141092788

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

LRP1B

AU3790302

chr2:
141676046-141676046

A

G

intronic

De novo

-

Yuen2017 G

LRP1B

1-0736-003

chr2:
141966163-141966169

CGGGGGG

CGGGGGGG

intronic

De novo

-

Yuen2017 G

LRP1B

7-0129-003

chr2:
141280649-141280649

C

G

intronic

De novo

-

Yuen2017 G

LRP1B

08C75365

chr2:
141083302-141083302

A

C

intronic

De novo

-

8.383E-6

Satterstrom2020 E

LRP1B

7-0223-003

chr2:
141616816-141616816

C

A

intronic

De novo

-

Yuen2017 G

LRP1B

1-0871-003

chr2:
143104863-143104863

A

G

intergenic

De novo

-

Yuen2017 G

LRP1B

2-1635-004

chr2:
143327651-143327651

A

C

intergenic

De novo

-

Yuen2017 G

LRP1B

2-0007-003

chr2:
141283080-141283080

T

A

intronic

De novo

-

Yuen2017 G

LRP1B

2-1690-003

chr2:
141632212-141632212

G

T

intronic

De novo

-

Yuen2017 G

LRP1B

2-1485-004

chr2:
143619736-143619736

C

A

intergenic

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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