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Results for "LRP6"

Variant Events: 19

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     1-0405-003chr12:
12324261-12324261
TCintronicDe novo--Yuen2017 G
LRP6     13841.p1chr12:
12274290-12274290
CTexonicMosaicnonsynonymous SNVNM_002336c.G4612Ap.D1538N29.7-Dou2017 E
LRP6     AU4072303chr12:
12473876-12473876
TGintergenicDe novo--Yuen2017 G
LRP6     DEASD_1088_001chr12:
12334193-12334193
CTexonicDe novononsynonymous SNVNM_002336c.G1157Ap.R386H33.02.472E-5Satterstrom2020 E
LRP6     09C83873chr12:
12336926-12336926
TAexonicDe novononsynonymous SNVNM_002336c.A964Tp.T322S16.92-Satterstrom2020 E
LRP6     3-0504-000chr12:
12288208-12288208
CTexonicDe novononsynonymous SNVNM_002336c.G3634Ap.G1212S34.0-Tammimies2015 E
LRP6     14370.p1chr12:
12426945-12426945
TCintergenicDe novo--Turner2016 G
LRP6     14370.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
LRP6     13964.p1chr12:
12357985-12357985
AGintronicDe novo--Turner2016 G
LRP6     2-0297-003chr12:
12354825-12354825
ACintronicDe novo--Yuen2017 G
LRP6     14370.p1chr12:
12426942-12426942
GAintergenicDe novo--Turner2016 G
LRP6     2-1562-004chr12:
12300032-12300032
GAintronicDe novo--Yuen2017 G
LRP6     2-1244-003chr12:
12315639-12315639
TCintronicDe novo--Yuen2016 G
Yuen2017 G
LRP6     1-0640-003chr12:
12385202-12385202
CTintronicDe novo--Yuen2017 G
LRP6     11121.p1chr12:
12311817-12311818
CACexonicDe novoframeshift deletionNM_002336c.2736delTp.F912fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
LRP6     7-0183-003chr12:
12402494-12402494
CTintronicDe novo--Yuen2017 G
LRP6     08C73464chr12:
12274146-12274146
TAexonicDe novononsynonymous SNVNM_002336c.A4756Tp.S1586C20.7-Satterstrom2020 E
LRP6     AU4015302chr12:
12304704-12304704
TCintronicDe novo--Yuen2017 G
LRP6     DEASD_0042_002chr12:
12291723-12291723
GTintronicDe novo-8.579E-6Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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 notesView
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