Variant Results

or

Results for "LRP2"

Variant Events: 44

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

LRP2

AU3635301

chr2:
170068266-170068266

G

A

intronic

De novo

-

Yuen2017 G

LRP2

1483JS0017

chr2:
170030556-170030556

G

C

exonic

De novo

nonsynonymous SNV

NM_004525

c.C10887G

p.H3629Q

17.97

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

LRP2

Mahjani2021:27

chr2:
170034312-170034312

C

T

splicing

15.66

-

Mahjani2021 E

LRP2

11456.p1

chr2:
170144422-170144422

T

C

intronic

De novo

-

Turner2016 G

LRP2

2-1428-003

chr2:
170313204-170313204

C

A

intergenic

De novo

-

Yuen2017 G

LRP2

13534.p1

chr2:
170012798-170012798

C

T

exonic

De novo

nonsynonymous SNV

NM_004525

c.G12137A

p.R4046Q

8.986

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

LRP2

AGG0179

chr2:
170092392-170092392

A

T

exonic

De novo

nonsynonymous SNV

NM_004525

c.T4878A

p.D1626E

18.29

-

Fu2022 E
Satterstrom2020 E

LRP2

SP0002473

chr2:
170139461-170139461

G

A

exonic

Inherited

stopgain

NM_004525

c.C1093T

p.R365X

38.0

-

Feliciano2019 E

LRP2

Uddin2014:52

chr2:
170042308-170042308

G

A

exonic

De novo

stopgain

NM_004525

c.C9550T

p.R3184X

53.0

-

Uddin2014 E

LRP2

5-0077-004

chr2:
170029189-170029189

T

G

intronic

De novo

-

Yuen2017 G

LRP2

Hu2022:81

chr2:
170030607-170030607

C

A

exonic

Unknown

nonsynonymous SNV

NM_004525

c.G10836T

p.Q3612H

15.29

2.472E-5

Hu2022 T

LRP2

1-0595-004

chr2:
170207586-170207586

C

A

intronic

De novo

-

Yuen2017 G

LRP2

SSC06968

chr2:
170042308-170042308

G

A

exonic

De novo

stopgain

NM_004525

c.C9550T

p.R3184X

53.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E

LRP2

SSC08168

chr2:
170012798-170012798

C

T

exonic

De novo

nonsynonymous SNV

NM_004525

c.G12137A

p.R4046Q

8.986

-

Fu2022 E
Lim2017 E

LRP2

1702001

chr2:
170026236-170026240

CCAAA

C

exonic

De novo

frameshift deletion

NM_004525

c.11469_11472del

p.C3823fs

-

Fu2022 E
Satterstrom2020 E

LRP2

Hu2022:81

chr2:
170081952-170081954

GTG

G

exonic

Unknown

frameshift deletion

NM_004525

c.5404_5405del

p.H1802fs

-

Hu2022 T

LRP2

1-0563-004

chr2:
169999321-169999321

A

T

intronic

De novo

-

1.647E-5

Yuen2017 G

LRP2

1-0568-003

chr2:
170035982-170035982

A

G

intronic

De novo

-

Yuen2017 G

LRP2

PN400257

chr2:
170028581-170028581

C

T

exonic

Unknown

nonsynonymous SNV

NM_004525

c.G11207A

p.R3736H

33.0

2.471E-5

Leblond2019 E

LRP2

Codina-Sola2015:ASD_35

chr2:
170129448-170129448

C

T

exonic

Unknown

nonsynonymous SNV

NM_004525

c.G2105A

p.R702H

12.74

7.418E-5

Codina-Sola2015 E

LRP2

1-0458-003

chr2:
169991782-169991782

C

A

intronic

De novo

-

Yuen2017 G

LRP2

2-1174-005B

chr2:
169991782-169991782

C

A

intronic

De novo

-

Yuen2017 G

LRP2

1708001

chr2:
170101262-170101262

T

C

exonic

De novo

nonsynonymous SNV

NM_004525

c.A3371G

p.K1124R

9.715

-

Fu2022 E
Satterstrom2020 E

LRP2

1-0120-003

chr2:
170001488-170001488

C

G

intronic

De novo

-

Yuen2017 G

LRP2

Chen2017:12

chr2:
170030556-170030556

G

C

exonic

De novo

nonsynonymous SNV

NM_004525

c.C10887G

p.H3629Q

17.97

-

Chen2017 E

LRP2

Mahjani2021:113

chr2:
170127414-170127414

C

A

exonic

stopgain

NM_004525

c.G2320T

p.G774X

42.0

-

Mahjani2021 E

LRP2

1-0150-003

chr2:
170215381-170215381

C

A

intronic

De novo

-

Yuen2017 G

LRP2

5-0033-004

chr2:
170296176-170296176

G

T

intergenic

De novo

-

Yuen2017 G

LRP2

7-0102-003

chr2:
170096097-170096097

G

A

exonic

De novo

nonsynonymous SNV

NM_004525

c.C4234T

p.R1412W

18.87

8.238E-5

Yuen2017 G

LRP2

2-0033-003

chr2:
170312650-170312650

T

A

intergenic

De novo

-

Yuen2017 G

LRP2

2-1398-004

chr2:
170036059-170036059

T

C

intronic

De novo

-

Yuen2017 G

LRP2

2-1567-003

chr2:
169998279-169998279

C

T

intronic

De novo

-

Yuen2017 G

LRP2

1-0150-003

chr2:
170247981-170247981

T

G

intergenic

De novo

-

Yuen2017 G

LRP2

Lee2020:143

chr2:
170083012-170083012

C

T

exonic

nonsynonymous SNV

NM_004525

c.G5314A

p.V1772I

13.98

-

Lee2020 T

LRP2

12036-1

chr2:
170068497-170068508

CATGGTTTCTGA

C

exonic

De novo

frameshift deletion

NM_004525

c.6250_6260del

p.S2084fs

-

Fu2022 E

LRP2

5-0050-004

chr2:
170036048-170036048

T

C

intronic

De novo

-

Yuen2017 G

LRP2

PN400587

chr2:
170028581-170028581

C

T

exonic

Unknown

nonsynonymous SNV

NM_004525

c.G11207A

p.R3736H

33.0

2.471E-5

Leblond2019 E

LRP2

SP0081088

chr2:
170129673-170129674

AT

A

intronic

De novo

-

Fu2022 E

LRP2

SP0061891

chr2:
170104024-170104024

C

T

exonic

De novo

synonymous SNV

NM_004525

c.G2772A

p.E924E

-

8.259E-6

Fu2022 E

LRP2

5-0004-003

chr2:
170035988-170035988

A

T

intronic

De novo

-

Yuen2017 G

LRP2

Viggiano2022:105.3

chr2:
170115559-170115559

G

A

exonic

Maternal

nonsynonymous SNV

NM_004525

c.C2489T

p.S830L

16.76

-

Viggiano2022 GT

LRP2

12409.p1

chr2:
170042308-170042308

G

A

exonic

De novo

stopgain

NM_004525

c.C9550T

p.R3184X

53.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

LRP2

2-1456-003

chr2:
170035982-170035982

A

G

intronic

De novo

-

Yuen2017 G

LRP2

SP0133348

chr2:
170058137-170058137

C

T

splicing

De novo

splicing

33.0

-

Fu2022 E

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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