Variant Results

or

Results for "LRP1"

Variant Events: 48

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

LRP1

SSC06093

chr12:
57573339-57573339

G

T

exonic

De novo

nonsynonymous SNV

NM_002332

c.G4966T

p.D1656Y

24.4

-

Fu2022 E
Lim2017 E
Trost2022 G

LRP1

Lim2017:5333

chr12:
57532354-57532354

C

T

exonic

De novo

synonymous SNV

NM_002332

c.C180T

p.A60A

-

Lim2017 E

LRP1

MCD-008-3

chr12:
57570830-57570830

C

T

exonic

De novo

nonsynonymous SNV

NM_002332

c.C3998T

p.T1333I

15.17

-

Tuncay2023 G

LRP1

SSC06938

chr12:
57594563-57594563

A

G

exonic

De novo

nonsynonymous SNV

NM_002332

c.A10190G

p.N3397S

18.06

-

Fu2022 E
Lim2017 E

LRP1

5333

chr12:
57532354-57532354

C

T

exonic

De novo

synonymous SNV

NM_002332

c.C180T

p.A60A

-

Fu2022 E
Trost2022 G

LRP1

A10

chr12:
57559154-57559154

G

A

intronic

De novo

-

Wu2018 G

LRP1

12250.p1

chr12:
57605019-57605019

G

A

exonic

Mosaic

nonsynonymous SNV

NM_002332

c.G12977A

p.R4326Q

9.121

-

Dou2017 E

LRP1

SSC07028

chr12:
57548165-57548165

A

AG

intronic

De novo

-

Trost2022 G

LRP1

4-0025-003

chr12:
57591149-57591149

C

T

exonic

De novo

synonymous SNV

NM_002332

c.C9144T

p.N3048N

-

Trost2022 G
Zhou2022 GE

LRP1

37078

chr12:
57548340-57548340

C

T

exonic

De novo

synonymous SNV

NM_002332

c.C1083T

p.L361L

-

2.0E-4

Trost2022 G

LRP1

REACH000626

chr12:
57542537-57542537

A

G

intronic

De novo

-

Trost2022 G

LRP1

Wang2023:403

chr12:
57594233-57594233

C

G

exonic

De novo

nonsynonymous SNV

NM_002332

c.C10023G

p.C3341W

13.01

-

Wang2023 E

LRP1

REACH000644

chr12:
57589887-57589887

T

A

exonic

nonsynonymous SNV

NM_002332

c.T8719A

p.S2907T

6.606

-

Zhou2022 GE

LRP1

MSSNG00109-004

chr12:
57569946-57569946

G

A

intronic

De novo

-

Trost2022 G

LRP1

MSSNG00415-003

chr12:
57585662-57585662

C

G

intronic

De novo

-

Trost2022 G

LRP1

PN400297

chr12:
57577915-57577915

C

T

exonic

Unknown

nonsynonymous SNV

NM_002332

c.C5977T

p.R1993W

21.8

0.0018

Leblond2019 E

LRP1

SP0026933

chr12:
57537541-57537541

C

G

exonic

De novo

nonsynonymous SNV

NM_002332

c.C408G

p.N136K

6.285

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

LRP1

SP0085257

chr12:
57560088-57560088

A

C

intronic

De novo

-

Trost2022 G

LRP1

SP0144505

chr12:
57560088-57560088

A

C

intronic

De novo

-

Trost2022 G

LRP1

13322.p1

chr12:
57548165-57548165

A

AG

intronic

De novo

-

Satterstrom2020 E

LRP1

mAGRE5845

chr12:
57601895-57601897

CCG

C

exonic

Maternal

frameshift deletion

NM_002332

c.11935_11936del

p.R3979fs

-

Cirnigliaro2023 G

LRP1

SP0060494

chr12:
57572170-57572170

G

A

exonic

De novo

nonsynonymous SNV

NM_002332

c.G4390A

p.D1464N

24.8

-

Fu2022 E
Zhou2022 GE

LRP1

mAGRE5672

chr12:
57585205-57585216

AAGCACGTGGGC

A

exonic

De novo

frameshift deletion

NM_002332

c.7340_7350del

p.K2447fs

-

Cirnigliaro2023 G

LRP1

AU024607

chr12:
57566723-57566723

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRP1

SP0099446

chr12:
57572141-57572141

G

A

splicing

De novo

splicing

20.4

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LRP1

SP0050075

chr12:
57587449-57587449

T

A

exonic

De novo

synonymous SNV

NM_002332

c.T7785A

p.S2595S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LRP1

SP0010865

chr12:
57602506-57602506

G

C

exonic

De novo

nonsynonymous SNV

NM_002332

c.G12051C

p.W4017C

18.15

-

Fu2022 E
Zhou2022 GE

LRP1

SP0032243

chr12:
57574278-57574278

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

LRP1

SP0092264

chr12:
57556625-57556625

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

LRP1

11205.p1

chr12:
57532354-57532354

C

T

exonic

De novo

synonymous SNV

NM_002332

c.C180T

p.A60A

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

LRP1

SP0103039

chr12:
57590786-57590786

C

T

exonic

De novo

nonsynonymous SNV

NM_002332

c.C8914T

p.R2972W

24.7

8.951E-6

Fu2022 E
Zhou2022 GE

LRP1

14640.p1

chr12:
57548340-57548340

C

T

exonic

De novo

synonymous SNV

NM_002332

c.C1083T

p.L361L

-

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

LRP1

SP0073952

chr12:
57588395-57588395

G

A

exonic

De novo

nonsynonymous SNV

NM_002332

c.G8104A

p.A2702T

14.35

2.512E-5

Fu2022 E
Zhou2022 GE

LRP1

12698.p1

chr12:
57573339-57573339

G

T

exonic

De novo

nonsynonymous SNV

NM_002332

c.G4966T

p.D1656Y

24.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

LRP1

SP0074229

chr12:
57600484-57600484

G

A

exonic

De novo

nonsynonymous SNV

NM_002332

c.G11819A

p.R3940H

27.6

8.293E-6

Fu2022 E
Zhou2022 GE

LRP1

13195.p1

chr12:
57594563-57594563

A

G

exonic

De novo

nonsynonymous SNV

NM_002332

c.A10190G

p.N3397S

18.06

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE

LRP1

NDAR_INVEK534HR7_wes1

chr12:
57599250-57599250

G

A

exonic

De novo

nonsynonymous SNV

NM_002332

c.G11452A

p.G3818S

15.83

5.861E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LRP1

Uddin2014:24

chr12:
57594563-57594563

A

G

exonic

De novo

nonsynonymous SNV

NM_002332

c.A10190G

p.N3397S

18.06

-

Uddin2014 E

LRP1

SP0046080

chr12:
57597200-57597200

A

G

exonic

De novo

nonsynonymous SNV

NM_002332

c.A10847G

p.D3616G

17.84

-

Fu2022 E
Zhou2022 GE

LRP1

SP0082451

chr12:
57603939-57603939

G

GC

exonic

De novo

frameshift insertion

NM_002332

c.12568dupC

p.T4189fs

-

0.0026

Antaki2022 GE
Fu2022 E
Trost2022 G

LRP1

1-0142-005

chr12:
57585548-57585548

A

AT

intronic

De novo

-

Yuen2017 G

LRP1

SP0109274

chr12:
57598547-57598547

G

A

intronic

De novo

-

4.159E-5

Fu2022 E
Trost2022 G

LRP1

SP0113984

chr12:
57597354-57597354

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

LRP1

1-0025-004

chr12:
57568760-57568760

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRP1

SP0005392

chr12:
57599109-57599109

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

LRP1

1-0206-004

chr12:
57585553-57585553

T

TC

intronic

De novo

-

Yuen2017 G

LRP1

1-0582-003

chr12:
57583335-57583335

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRP1

1-0826-004

chr12:
57561110-57561110

C

T

intronic

De novo

-

Trost2022 G
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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