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Results for "APOBR"

Variant Events: 13

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
APOBR     AU067Achr16:
28507397-28507397		TCexonicDe novosynonymous SNVNM_018690c.T1035Cp.A345A-6.717E-5Satterstrom2020 E
Trost2022 G
Zhou2022 GE
APOBR     A1330Bchr16:
28508175-28508175		GAexonicDe novononsynonymous SNVNM_018690c.G1813Ap.G605S4.556-Fu2022 E
APOBR     13834.p1chr16:
28509202-28509202		AGexonicDe novononsynonymous SNVNM_018690c.A2840Gp.E947G17.15-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
APOBR     mAGRE5622chr16:
28509415-28509428		GGTCCCTCCTAGACGexonicMaternalframeshift deletionNM_018690c.2970_2982delp.G990fs-4.619E-5Cirnigliaro2023 G
APOBR     mAGRE4180chr16:
28508370-28508370		CCTAexonicPaternalframeshift insertionNM_018690c.2008_2009insTAp.L670fs--Cirnigliaro2023 G
APOBR     SP0047040chr16:
28509710-28509710		GAintronicDe novo-5.781E-5Fu2022 E
Trost2022 G
Trost2022 G
APOBR     SP0096688chr16:
28507412-28507412		ACexonicDe novosynonymous SNVNM_018690c.A1050Cp.G350G0.0012.503E-5Fu2022 E
APOBR     Lim2017:70428chr16:
28509202-28509202		AGexonicDe novononsynonymous SNVNM_018690c.A2840Gp.E947G17.15-Lim2017 E
APOBR     mAGRE5211chr16:
28509528-28509528		GGAGCCCCCexonicPaternalframeshift insertionNM_018690c.3082_3083insAGCCCCCp.E1028fs-3.307E-5Cirnigliaro2023 G
APOBR     SP0096688chr16:
28507378-28507378		TCexonicDe novononsynonymous SNVNM_018690c.T1016Cp.I339T0.5444.13E-5Trost2022 G
APOBR     70428chr16:
28509202-28509202		AGexonicDe novononsynonymous SNVNM_018690c.A2840Gp.E947G17.15-Trost2022 G
APOBR     M08814chr16:
28507100-28507101		AGAexonicPaternalframeshift deletionNM_018690c.739delGp.G247fs--Guo2018 T
APOBR     SP0141034chr16:
28509800-28509800		CGexonicnonsynonymous SNVNM_018690c.C3268Gp.R1090G12.93-Zhou2022 GE
Source Variant Information

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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.
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