Variant Results

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Results for "LRP6"

Variant Events: 24

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

LRP6

1-0405-003

chr12:
12324261-12324261

T

C

intronic

De novo

-

-

Yuen2017 G

LRP6

SP0137696

chr12:
12318041-12318041

T

G

exonic

De novo

synonymous SNV

NM_002336

c.A1734C

p.L578L

-

-

Fu2022 E

LRP6

SP0112468

chr12:
12334134-12334134

C

T

exonic

De novo

nonsynonymous SNV

NM_002336

c.G1216A

p.D406N

32.0

-

Fu2022 E

LRP6

SMHC90004s000

chr12:
12334328-12334328

C

T

exonic

De novo

nonsynonymous SNV

NM_002336

c.G1022A

p.R341H

17.04

Yuan2023 E

LRP6

SP0045278

chr12:
12312924-12312924

A

T

intronic

De novo

-

-

Fu2022 E

LRP6

13841.p1

chr12:
12274290-12274290

C

T

exonic

Mosaic

nonsynonymous SNV

NM_002336

c.G4612A

p.D1538N

29.7

-

Dou2017 E

LRP6

AU4072303

chr12:
12473876-12473876

T

G

intergenic

De novo

-

-

Yuen2017 G

LRP6

DEASD_1088_001

chr12:
12334193-12334193

C

T

exonic

De novo

nonsynonymous SNV

NM_002336

c.G1157A

p.R386H

33.0

Fu2022 E
Satterstrom2020 E

LRP6

09C83873

chr12:
12336926-12336926

T

A

exonic

De novo

nonsynonymous SNV

NM_002336

c.A964T

p.T322S

16.92

-

Fu2022 E
Satterstrom2020 E

LRP6

3-0504-000

chr12:
12288208-12288208

C

T

exonic

De novo

nonsynonymous SNV

NM_002336

c.G3634A

p.G1212S

34.0

-

Tammimies2015 E

LRP6

14370.p1

chr12:
12426945-12426945

T

C

intergenic

De novo

-

-

Turner2016 G

LRP6

14370.p1

Complex Event; expand row to view variants

De novo

-

-

Turner2016 G
Turner2016 G

LRP6

13964.p1

chr12:
12357985-12357985

A

G

intronic

De novo

-

-

Turner2016 G

LRP6

2-0297-003

chr12:
12354825-12354825

A

C

intronic

De novo

-

-

Yuen2017 G

LRP6

14370.p1

chr12:
12426942-12426942

G

A

intergenic

De novo

-

-

Turner2016 G

LRP6

2-1562-004

chr12:
12300032-12300032

G

A

intronic

De novo

-

-

Yuen2017 G

LRP6

2-1244-003

chr12:
12315639-12315639

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

LRP6

1-0640-003

chr12:
12385202-12385202

C

T

intronic

De novo

-

-

Yuen2017 G

LRP6

11121.p1

chr12:
12311817-12311818

CA

C

exonic

De novo

frameshift deletion

NM_002336

c.2736delT

p.F912fs

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

LRP6

SSC02140

chr12:
12311817-12311818

CA

C

exonic

De novo

frameshift deletion

NM_002336

c.2736delT

p.F912fs

-

-

Antaki2022 GE
Fu2022 E

LRP6

7-0183-003

chr12:
12402494-12402494

C

T

intronic

De novo

-

-

Yuen2017 G

LRP6

08C73464

chr12:
12274146-12274146

T

A

exonic

De novo

nonsynonymous SNV

NM_002336

c.A4756T

p.S1586C

20.7

-

Fu2022 E
Satterstrom2020 E

LRP6

AU4015302

chr12:
12304704-12304704

T

C

intronic

De novo

-

-

Yuen2017 G

LRP6

DEASD_0042_002

chr12:
12291723-12291723

G

T

intronic

De novo

-

Satterstrom2020 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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