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Results for "LRP6"

Variant Events: 37

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     SP0137696chr12:
12318041-12318041
TGexonicDe novosynonymous SNVNM_002336c.A1734Cp.L578L--Fu2022 E
Trost2022 G
Zhou2022 GE
LRP6     SP0112468chr12:
12334134-12334134
CTexonicDe novononsynonymous SNVNM_002336c.G1216Ap.D406N32.0-Fu2022 E
Trost2022 G
Zhou2022 GE
LRP6     SMHC90004s000chr12:
12334328-12334328
CTexonicDe novononsynonymous SNVNM_002336c.G1022Ap.R341H17.041.651E-5Yuan2023 E
LRP6     SP0045278chr12:
12312924-12312924
ATintronicDe novo--Fu2022 E
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-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
LRP6     09C83873chr12:
12336926-12336926
TAexonicDe novononsynonymous SNVNM_002336c.A964Tp.T322S16.92-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
LRP6     3-0504-000chr12:
12288208-12288208
CTexonicDe novononsynonymous SNVNM_002336c.G3634Ap.G1212S34.0-Tammimies2015 E
Trost2022 G
Zhou2022 GE
LRP6     2-0297-003chr12:
12354825-12354825
ACintronicDe novo--Trost2022 G
Yuen2017 G
LRP6     SSC02140chr12:
12311817-12311818
CACexonicDe novoframeshift deletionNM_002336c.2736delTp.F912fs--Antaki2022 GE
Fu2022 E
Trost2022 G
LRP6     7-0183-003chr12:
12402494-12402494
CTintronicDe novo--Trost2022 G
Yuen2017 G
LRP6     AU4015302chr12:
12304704-12304704
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRP6     1-0405-003chr12:
12324261-12324261
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRP6     14370.p1chr12:
12426945-12426945
TCintergenicDe novo--Turner2016 G
LRP6     REACH000323chr12:
12369163-12369167
CTCTACintronicDe novo--Trost2022 G
LRP6     14370.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
LRP6     7-0446-003chr12:
12380843-12380843
TTAintronicDe novo--Trost2022 G
LRP6     13964.p1chr12:
12357985-12357985
AGintronicDe novo--Turner2016 G
LRP6     MT_151.3chr12:
12352390-12352390
TCintronicDe novo--Trost2022 G
LRP6     14370.p1chr12:
12426942-12426942
GAintergenicDe novo--Turner2016 G
LRP6     REACH000387chr12:
12355258-12355259
CTCintronicDe novo--Trost2022 G
LRP6     2-1562-004chr12:
12300032-12300032
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRP6     MSSNG00339-004chr12:
12292319-12292319
GAintronicDe novo--Trost2022 G
LRP6     2-1244-003chr12:
12315639-12315639
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRP6     MT_154.3chr12:
12303361-12303361
AGintronicDe novo--Trost2022 G
LRP6     1-0640-003chr12:
12385202-12385202
CTintronicDe novo--Yuen2017 G
LRP6     SP0163251chr12:
12283794-12283794
TCexonicDe novononsynonymous SNVNM_002336c.A4004Gp.N1335S3.8638.259E-6Trost2022 G
LRP6     11121.p1chr12:
12311817-12311818
CACexonicDe novoframeshift deletionNM_002336c.2736delTp.F912fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
LRP6     MSSNG00098-003chr12:
12402437-12402437
CTintronicDe novo--Trost2022 G
LRP6     MSSNG00054-004chr12:
12410327-12410327
CTintronicDe novo--Trost2022 G
LRP6     08C73464chr12:
12274146-12274146
TAexonicDe novononsynonymous SNVNM_002336c.A4756Tp.S1586C20.7-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
LRP6     MSSNG00389-003chr12:
12398283-12398283
TAintronicDe novo--Trost2022 G
LRP6     REACH000675chr12:
12402059-12402059
AGintronicDe novo--Trost2022 G
LRP6     AU004403chr12:
12384303-12384303
GTintronicDe novo--Trost2022 G
LRP6     DEASD_0042_002chr12:
12291723-12291723
GTintronicDe novo-8.579E-6Satterstrom2020 E
Trost2022 G
LRP6     4-0026-003chr12:
12390422-12390422
TCintronicDe novo--Trost2022 G
Source Variant Information

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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 notesView
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