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Results for "LRP2"

Variant Events: 38

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     AU3635301chr2:
170068266-170068266
GAintronicDe novo--Yuen2017 G
LRP2     1483JS0017chr2:
170030556-170030556
GCexonicDe novononsynonymous SNVNM_004525c.C10887Gp.H3629Q17.97-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
LRP2     Mahjani2021:27chr2:
170034312-170034312
CTsplicingsplicing15.66-Mahjani2021 E
LRP2     11456.p1chr2:
170144422-170144422
TCintronicDe novo--Turner2016 G
LRP2     2-1428-003chr2:
170313204-170313204
CAintergenicDe novo--Yuen2017 G
LRP2     13534.p1chr2:
170012798-170012798
CTexonicDe novononsynonymous SNVNM_004525c.G12137Ap.R4046Q8.986-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
LRP2     AGG0179chr2:
170092392-170092392
ATexonicDe novononsynonymous SNVNM_004525c.T4878Ap.D1626E18.29-Satterstrom2020 E
LRP2     SP0002473chr2:
170139461-170139461
GAexonicInheritedstopgainNM_004525c.C1093Tp.R365X38.0-Feliciano2019 E
LRP2     Uddin2014:52chr2:
170042308-170042308
GAexonicDe novostopgainNM_004525c.C9550Tp.R3184X53.0-Uddin2014 E
LRP2     5-0077-004chr2:
170029189-170029189
TGintronicDe novo--Yuen2017 G
LRP2     1-0595-004chr2:
170207586-170207586
CAintronicDe novo--Yuen2017 G
LRP2     SSC06968chr2:
170042308-170042308
GAexonicDe novostopgainNM_004525c.C9550Tp.R3184X53.0-Lim2017 E
LRP2     SSC08168chr2:
170012798-170012798
CTexonicDe novononsynonymous SNVNM_004525c.G12137Ap.R4046Q8.986-Lim2017 E
LRP2     1702001chr2:
170026236-170026240
CCAAACexonicDe novoframeshift deletionNM_004525c.11469_11472delp.C3823fs--Satterstrom2020 E
LRP2     1-0563-004chr2:
169999321-169999321
ATintronicDe novo-1.647E-5Yuen2017 G
LRP2     1-0568-003chr2:
170035982-170035982
AGintronicDe novo--Yuen2017 G
LRP2     PN400257chr2:
170028581-170028581
CTexonicUnknownnonsynonymous SNVNM_004525c.G11207Ap.R3736H33.02.471E-5Leblond2019 E
LRP2     Codina-Sola2015:ASD_35chr2:
170129448-170129448
CTexonicUnknownnonsynonymous SNVNM_004525c.G2105Ap.R702H12.747.418E-5Codina-Sola2015 E
LRP2     1-0458-003chr2:
169991782-169991782
CAintronicDe novo--Yuen2017 G
LRP2     2-1174-005Bchr2:
169991782-169991782
CAintronicDe novo--Yuen2017 G
LRP2     1708001chr2:
170101262-170101262
TCexonicDe novononsynonymous SNVNM_004525c.A3371Gp.K1124R9.715-Satterstrom2020 E
LRP2     1-0120-003chr2:
170001488-170001488
CGintronicDe novo--Yuen2017 G
LRP2     Chen2017:12chr2:
170030556-170030556
GCexonicDe novononsynonymous SNVNM_004525c.C10887Gp.H3629Q17.97-Chen2017 E
LRP2     Mahjani2021:113chr2:
170127414-170127414
CAexonicstopgainNM_004525c.G2320Tp.G774X42.0-Mahjani2021 E
LRP2     1-0150-003chr2:
170215381-170215381
CAintronicDe novo--Yuen2017 G
LRP2     5-0033-004chr2:
170296176-170296176
GTintergenicDe novo--Yuen2017 G
LRP2     7-0102-003chr2:
170096097-170096097
GAexonicDe novononsynonymous SNVNM_004525c.C4234Tp.R1412W18.878.238E-5Yuen2017 G
LRP2     2-0033-003chr2:
170312650-170312650
TAintergenicDe novo--Yuen2017 G
LRP2     2-1398-004chr2:
170036059-170036059
TCintronicDe novo--Yuen2017 G
LRP2     2-1567-003chr2:
169998279-169998279
CTintronicDe novo--Yuen2017 G
LRP2     1-0150-003chr2:
170247981-170247981
TGintergenicDe novo--Yuen2017 G
LRP2     Lee2020:143chr2:
170083012-170083012
CTexonicnonsynonymous SNVNM_004525c.G5314Ap.V1772I13.98-Lee2020 T
LRP2     5-0050-004chr2:
170036048-170036048
TCintronicDe novo--Yuen2017 G
LRP2     PN400587chr2:
170028581-170028581
CTexonicUnknownnonsynonymous SNVNM_004525c.G11207Ap.R3736H33.02.471E-5Leblond2019 E
LRP2     5-0004-003chr2:
170035988-170035988
ATintronicDe novo--Yuen2017 G
LRP2     Viggiano2022:105.3chr2:
170115559-170115559
GAexonicMaternalnonsynonymous SNVNM_004525c.C2489Tp.S830L16.76-Viggiano2022 GT
LRP2     12409.p1chr2:
170042308-170042308
GAexonicDe novostopgainNM_004525c.C9550Tp.R3184X53.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
LRP2     2-1456-003chr2:
170035982-170035982
AGintronicDe novo--Yuen2017 G
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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