Variant Results

or

Results for "ABCA1"

Variant Events: 49

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

AU2756306

chr9:
107801824-107801824

T

C

intergenic

De novo

-

Yuen2017 G

ABCA1

11149.p1

chr9:
107558453-107558453

G

C

exonic

De novo

nonsynonymous SNV

NM_005502

c.C5263G

p.P1755A

26.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

ABCA1

AU4006302

chr9:
107589761-107589761

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA1

SP0080256

chr9:
107589292-107589292

G

A

exonic

De novo

synonymous SNV

NM_005502

c.C2274T

p.Y758Y

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA1

SP0134520

chr9:
107594844-107594844

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

ABCA1

SP0105120

chr9:
107555039-107555039

T

G

intronic

De novo

-

Fu2022 E

ABCA1

AU3859301

chr9:
107588422-107588422

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA1

1-0541-003

chr9:
107822707-107822707

G

A

intergenic

De novo

-

Yuen2017 G

ABCA1

2-1272-003

chr9:
107840470-107840470

G

A

intergenic

De novo

-

Yuen2016 G

ABCA1

AU056803

chr9:
107604739-107604739

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA1

1-0579-003

chr9:
107567001-107567001

T

C

exonic

De novo

nonsynonymous SNV

NM_005502

c.A4465G

p.R1489G

14.54

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ABCA1

AU3051302

chr9:
107954013-107954013

G

A

intergenic

De novo

-

Yuen2017 G

ABCA1

2-1220-003

chr9:
107834788-107834788

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ABCA1

13019.p1

chr9:
107574960-107574960

C

T

exonic

Mosaic

synonymous SNV

NM_005502

c.G3945A

p.G1315G

-

0.0072

Dou2017 E

ABCA1

12951.p1

chr9:
107576401-107576401

G

A

exonic

Mosaic

nonsynonymous SNV

NM_005502

c.C3899T

p.P1300L

14.58

-

Dou2017 E

ABCA1

2-1719-003

chr9:
107581675-107581675

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA1

AU3905301

chr9:
107880440-107880440

A

T

intergenic

De novo

-

Yuen2017 G

ABCA1

1025

chr9:
107552515-107552515

C

T

intronic

De novo

-

Trost2022 G

ABCA1

AGG0123

chr9:
107582204-107582204

G

A

intronic

De novo

-

Fu2022 E

ABCA1

SP0041642

chr9:
107560784-107560784

C

T

exonic

De novo

nonsynonymous SNV

NM_005502

c.G5039A

p.R1680Q

36.0

4.0E-4

Trost2022 G

ABCA1

2-1519-006

chr9:
107550406-107550407

GT

AC

intronic

De novo

-

Trost2022 G

ABCA1

AU4072303

chr9:
107677380-107677380

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA1

AU3905301

chr9:
107799843-107799843

C

T

intergenic

De novo

-

Yuen2017 G

ABCA1

2-0198-005

chr9:
107908459-107908459

C

A

intergenic

De novo

-

Yuen2017 G

ABCA1

7-0308-003

chr9:
107682511-107682511

G

A

intronic

De novo

-

Trost2022 G

ABCA1

H3E8D_01

chr9:
107671266-107671266

G

A

intronic

De novo

-

Trost2022 G

ABCA1

1-0508-003

chr9:
107699142-107699142

G

A

intergenic

De novo

-

Yuen2017 G

ABCA1

SSC00085

chr9:
107558453-107558453

G

C

exonic

De novo

nonsynonymous SNV

NM_005502

c.C5263G

p.P1755A

26.8

-

Fu2022 E
Lim2017 E
Trost2022 G

ABCA1

MSSNG00353-003

chr9:
107672549-107672549

C

G

intronic

De novo

-

Trost2022 G

ABCA1

11044.p1

chr9:
107579670-107579670

G

A

exonic

Mosaic

stopgain

NM_005502

c.C3478T

p.Q1160X

46.0

-

Dou2017 E

ABCA1

SSC05872

chr9:
107589209-107589209

G

T

intronic

De novo

-

Trost2022 G

ABCA1

H3E8D_01

chr9:
107670568-107670568

T

A

intronic

De novo

-

Trost2022 G

ABCA1

AU055603

chr9:
107567261-107567261

G

A

intronic

De novo

-

Trost2022 G

ABCA1

SP0195322

chr9:
107582048-107582048

A

G

intronic

De novo

-

Trost2022 G

ABCA1

2-1336-004

chr9:
107852714-107852714

A

G

intergenic

De novo

-

Yuen2017 G

ABCA1

12733.p1

chr9:
107589209-107589209

G

T

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

ABCA1

2-0198-004

chr9:
107908459-107908459

C

A

intergenic

De novo

-

Yuen2017 G

ABCA1

3-0446-000

chr9:
107865194-107865194

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ABCA1

2-0198-004

chr9:
107822707-107822707

G

A

intergenic

De novo

-

Yuen2017 G

ABCA1

Wang2023:765

chr9:
107624039-107624039

G

C

exonic

De novo

nonsynonymous SNV

NM_005502

c.C464G

p.S155C

21.8

-

Wang2023 E

ABCA1

1-0569-003

chr9:
107727050-107727050

G

A

intergenic

De novo

-

Yuen2017 G

ABCA1

AU2427303

chr9:
107743390-107743390

T

C

intergenic

De novo

-

Yuen2017 G

ABCA1

1-0627-005

chr9:
107716109-107716109

G

A

intergenic

De novo

-

Yuen2017 G

ABCA1

AU2951303

chr9:
107568203-107568203

C

G

intronic

De novo

-

Yuen2017 G

ABCA1

AU3891303

chr9:
107582484-107582484

G

C

intronic

De novo

-

Yuen2017 G

ABCA1

1-0120-003

chr9:
107723165-107723165

A

G

intergenic

De novo

-

Yuen2017 G

ABCA1

AU2951302

chr9:
107568203-107568203

C

G

intronic

De novo

-

Yuen2017 G

ABCA1

1-0509-003

chr9:
107892616-107892616

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ABCA1

AU4056302

chr9:
107835295-107835295

A

G

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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