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Results for "ABCA1"

Variant Events: 34

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
ABCA1     AU2756306chr9:
107801824-107801824
TCintergenicDe novo--Yuen2017 G
ABCA1     11149.p1chr9:
107558453-107558453
GCexonicDe novononsynonymous SNVNM_005502c.C5263Gp.P1755A26.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ABCA1     AU4006302chr9:
107589761-107589761
TCintronicDe novo--Yuen2017 G
ABCA1     AU3859301chr9:
107588422-107588422
TCintronicDe novo--Yuen2017 G
ABCA1     1-0541-003chr9:
107822707-107822707
GAintergenicDe novo--Yuen2017 G
ABCA1     2-1272-003chr9:
107840470-107840470
GAintergenicDe novo--Yuen2016 G
ABCA1     2-1336-004chr9:
107852714-107852714
AGintergenicDe novo--Yuen2017 G
ABCA1     AU056803chr9:
107604739-107604739
AGintronicDe novo--Yuen2017 G
ABCA1     12733.p1chr9:
107589209-107589209
GTintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ABCA1     2-0198-004chr9:
107908459-107908459
CAintergenicDe novo--Yuen2017 G
ABCA1     3-0446-000chr9:
107865194-107865194
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ABCA1     2-0198-004chr9:
107822707-107822707
GAintergenicDe novo--Yuen2017 G
ABCA1     1-0579-003chr9:
107567001-107567001
TCexonicDe novononsynonymous SNVNM_005502c.A4465Gp.R1489G14.54-Yuen2017 G
ABCA1     AU3051302chr9:
107954013-107954013
GAintergenicDe novo--Yuen2017 G
ABCA1     2-1220-003chr9:
107834788-107834788
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
ABCA1     13019.p1chr9:
107574960-107574960
CTexonicMosaicsynonymous SNVNM_005502c.G3945Ap.G1315G-0.0072Dou2017 E
ABCA1     12951.p1chr9:
107576401-107576401
GAexonicMosaicnonsynonymous SNVNM_005502c.C3899Tp.P1300L14.58-Dou2017 E
ABCA1     2-1719-003chr9:
107581675-107581675
GCintronicDe novo--Yuen2017 G
ABCA1     1-0569-003chr9:
107727050-107727050
GAintergenicDe novo--Yuen2017 G
ABCA1     AU2427303chr9:
107743390-107743390
TCintergenicDe novo--Yuen2017 G
ABCA1     AU3905301chr9:
107880440-107880440
ATintergenicDe novo--Yuen2017 G
ABCA1     AU4072303chr9:
107677380-107677380
TCintronicDe novo--Yuen2017 G
ABCA1     1-0627-005chr9:
107716109-107716109
GAintergenicDe novo--Yuen2017 G
ABCA1     AU2951303chr9:
107568203-107568203
CGintronicDe novo--Yuen2017 G
ABCA1     AU3891303chr9:
107582484-107582484
GCintronicDe novo--Yuen2017 G
ABCA1     AU3905301chr9:
107799843-107799843
CTintergenicDe novo--Yuen2017 G
ABCA1     1-0120-003chr9:
107723165-107723165
AGintergenicDe novo--Yuen2017 G
ABCA1     2-0198-005chr9:
107908459-107908459
CAintergenicDe novo--Yuen2017 G
ABCA1     AU2951302chr9:
107568203-107568203
CGintronicDe novo--Yuen2017 G
ABCA1     1-0508-003chr9:
107699142-107699142
GAintergenicDe novo--Yuen2017 G
ABCA1     SSC00085chr9:
107558453-107558453
GCexonicDe novononsynonymous SNVNM_005502c.C5263Gp.P1755A26.8-Lim2017 E
ABCA1     11044.p1chr9:
107579670-107579670
GAexonicMosaicstopgainNM_005502c.C3478Tp.Q1160X46.0-Dou2017 E
ABCA1     1-0509-003chr9:
107892616-107892616
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ABCA1     AU4056302chr9:
107835295-107835295
AGintergenicDe 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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