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Results for "APOB"

Variant Events: 14

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
APOB     AU3937301chr2:
21284994-21284994
TCintergenicDe novo--Yuen2017 G
APOB     14039_p1chr2:
21225612-21225612
GCexonicDe novononsynonymous SNVNM_000384c.C12682Gp.L4228V11.48-Fu2022 E
APOB     12851.p1chr2:
21229930-21229930
GAexonicDe novosynonymous SNVNM_000384c.C9810Tp.F3270F-1.0E-4Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
APOB     Chen2017:84chr2:
21229188-21229188
TGexonicDe novononsynonymous SNVNM_000384c.A10552Cp.N3518H13.02-Chen2017 E
APOB     14039.p1chr2:
21225612-21225612
GCexonicDe novo, Mosaicnonsynonymous SNVNM_000384c.C12682Gp.L4228V11.48-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
APOB     SSC06297chr2:
21229930-21229930
GAexonicDe novosynonymous SNVNM_000384c.C9810Tp.F3270F-1.0E-4Fu2022 E
APOB     1-0494-003chr2:
21261470-21261470
ATintronicDe novo--Yuen2017 G
APOB     AU3368303chr2:
21228955-21228955
TGexonicDe novononsynonymous SNVNM_000384c.A10785Cp.Q3595H10.84-Yuen2017 G
APOB     AU4197301chr2:
21293017-21293017
TCintergenicDe novo--Yuen2017 G
APOB     08C74292chr2:
21255235-21255235
GAexonicDe novononsynonymous SNVNM_000384c.C1343Tp.A448V6.6484.973E-5Fu2022 E
Satterstrom2020 E
APOB     1-0494-003Achr2:
21261470-21261470
ATintronicDe novo--Yuen2017 G
APOB     1483JS0022chr2:
21229188-21229188
TGexonicDe novononsynonymous SNVNM_000384c.A10552Cp.N3518H13.02-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
APOB     iHART2424chr2:
21225264-21225266
CATCexonicMaternalframeshift deletionNM_000384c.13028_13029delp.Y4343fs-2.539E-5Ruzzo2019 G
APOB     1660021chr2:
21237365-21237365
AGexonicDe novononsynonymous SNVNM_000384c.T3797Cp.M1266T5.1578.238E-6Fu2022 E
Satterstrom2020 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
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