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Results for "LRP1"

Variant Events: 20

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     13322.p1chr12:
57548165-57548165
AAGintronicDe novo--Satterstrom2020 E
LRP1     AU024607chr12:
57566723-57566723
AGintronicDe novo--Yuen2017 G
LRP1     SSC06093chr12:
57573339-57573339
GTexonicDe novononsynonymous SNVNM_002332c.G4966Tp.D1656Y24.4-Lim2017 E
LRP1     Lim2017:5333chr12:
57532354-57532354
CTexonicDe novosynonymous SNVNM_002332c.C180Tp.A60A--Lim2017 E
LRP1     SSC06938chr12:
57594563-57594563
AGexonicDe novononsynonymous SNVNM_002332c.A10190Gp.N3397S18.06-Lim2017 E
LRP1     11205.p1chr12:
57532354-57532354
CTexonicDe novosynonymous SNVNM_002332c.C180Tp.A60A--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
LRP1     14640.p1chr12:
57548340-57548340
CTexonicDe novosynonymous SNVNM_002332c.C1083Tp.L361L-2.0E-4Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
LRP1     12698.p1chr12:
57573339-57573339
GTexonicDe novononsynonymous SNVNM_002332c.G4966Tp.D1656Y24.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
LRP1     A10chr12:
57559154-57559154
GAintronicDe novo--Wu2018 G
LRP1     12250.p1chr12:
57605019-57605019
GAexonicMosaicnonsynonymous SNVNM_002332c.G12977Ap.R4326Q9.121-Dou2017 E
LRP1     13195.p1chr12:
57594563-57594563
AGexonicDe novononsynonymous SNVNM_002332c.A10190Gp.N3397S18.06-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
LRP1     NDAR_INVEK534HR7_wes1chr12:
57599250-57599250
GAexonicDe novononsynonymous SNVNM_002332c.G11452Ap.G3818S15.835.861E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
LRP1     Uddin2014:24chr12:
57594563-57594563
AGexonicDe novononsynonymous SNVNM_002332c.A10190Gp.N3397S18.06-Uddin2014 E
LRP1     1-0142-005chr12:
57585548-57585548
AATintronicDe novo--Yuen2017 G
LRP1     1-0025-004chr12:
57568760-57568760
CTintronicDe novo--Yuen2017 G
LRP1     1-0206-004chr12:
57585553-57585553
TTCintronicDe novo--Yuen2017 G
LRP1     PN400297chr12:
57577915-57577915
CTexonicUnknownnonsynonymous SNVNM_002332c.C5977Tp.R1993W21.80.0018Leblond2019 E
LRP1     SP0026933chr12:
57537541-57537541
CGexonicDe novononsynonymous SNVNM_002332c.C408Gp.N136K6.285-Feliciano2019 E
LRP1     1-0582-003chr12:
57583335-57583335
CTintronicDe novo--Yuen2017 G
LRP1     1-0826-004chr12:
57561110-57561110
CTintronicDe novo--Yuen2017 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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