Variant Results

or

Results for "ABCA2"

Variant Events: 35

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

ABCA2

iHART3196

chr9:
139909184-139909184

T

G

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.A3961C
c.A4051C

p.K1321Q
p.K1351Q

17.21

-

Ruzzo2019 G

ABCA2

SSC09758

chr9:
139912287-139912287

G

A

exonic

De novo

synonymous SNV

NM_001606
NM_212533

c.C2163T
c.C2253T

p.A721A
p.A751A

-

Trost2022 G

ABCA2

SP0156800

chr9:
139915221-139915221

T

C

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.A1190G
c.A1280G

p.D397G
p.D427G

10.25

-

Trost2022 G

ABCA2

SP0105909

chr9:
139911298-139911300

GAC

G

intronic

De novo

-

Trost2022 G

ABCA2

SSC06863

chr9:
139911824-139911824

C

T

intronic

De novo

-

2.583E-5

Trost2022 G

ABCA2

SP0003687

chr9:
139909184-139909184

T

G

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.A3961C
c.A4051C

p.K1321Q
p.K1351Q

17.21

-

Fu2022 E
Zhou2022 GE

ABCA2

SP0073894

chr9:
139910459-139910459

C

T

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.G3272A
c.G3362A

p.R1091Q
p.R1121Q

9.801

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA2

SP0010938

chr9:
139905223-139905223

C

T

intronic

De novo

-

2.612E-5

Fu2022 E

ABCA2

SP0099530

chr9:
139902880-139902880

G

A

exonic

De novo

synonymous SNV

NM_001606
NM_212533

c.C7263T
c.C7353T

p.F2421F
p.F2451F

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA2

SP0078765

chr9:
139905507-139905507

C

T

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.G5974A
c.G6064A

p.G1992R
p.G2022R

15.88

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA2

12240.p1

chr9:
139917312-139917312

G

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001606
NM_212533

c.C281G
c.C371G

p.T94R
p.T124R

21.5

-

Dou2017 E
Ji2016 E
Krumm2015 E
Lim2017 E
Zhou2022 GE

ABCA2

SP0089193

chr9:
139906626-139906626

G

A

intronic

De novo

-

4.291E-5

Fu2022 E
Trost2022 G

ABCA2

DEASD_1078_001

chr9:
139910387-139910387

G

GGC

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

ABCA2

SP0021653

chr9:
139905224-139905224

G

A

intronic

De novo

-

1.746E-5

Fu2022 E

ABCA2

SP0052622

chr9:
139912819-139912898

TGGGGCGGGGCCAAGATGCAGGGGCGGGACCAAGGCGTGGTGGGGGGGAAAGCAAGGCACGGGGGCGGGGCCAAGGTGTG

T

intronic

De novo

-

Fu2022 E

ABCA2

SP0108710

chr9:
139910385-139910385

C

CGGGGGGGGGGGGGGGGGGGGGGG

intronic

De novo

-

Fu2022 E

ABCA2

AU3839303

chr9:
139909184-139909184

T

G

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.A3961C
c.A4051C

p.K1321Q
p.K1351Q

17.21

-

Cirnigliaro2023 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

ABCA2

13192.p1

chr9:
139911824-139911824

C

T

intronic

De novo

-

2.583E-5

Satterstrom2020 E

ABCA2

13520.p1

chr9:
139906930-139906930

C

T

intronic

De novo

-

2.546E-5

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

ABCA2

mAGRE4327

chr9:
139911383-139911383

G

A

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.C2747T
c.C2837T

p.A916V
p.A946V

16.1

-

Cirnigliaro2023 G

ABCA2

13993.p1

chr9:
139912287-139912287

G

A

exonic

De novo

synonymous SNV

NM_001606
NM_212533

c.C2163T
c.C2253T

p.A721A
p.A751A

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

ABCA2

14275.p1

chr9:
139907554-139907554

G

A

exonic

De novo

synonymous SNV

NM_001606
NM_212533

c.C4767T
c.C4857T

p.F1589F
p.F1619F

-

1.0E-4

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

ABCA2

XH678

chr9:
139904094-139904094

G

A

exonic

De novo

synonymous SNV

NM_001606
NM_212533

c.C6633T
c.C6723T

p.D2211D
p.D2241D

-

1.0E-4

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ABCA2

SSC10846

chr9:
139907554-139907554

G

A

exonic

De novo

synonymous SNV

NM_001606
NM_212533

c.C4767T
c.C4857T

p.F1589F
p.F1619F

-

1.0E-4

Fu2022 E
Trost2022 G

ABCA2

5926

chr9:
139906388-139906388

C

T

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.G5443A
c.G5533A

p.V1815M
p.V1845M

15.35

8.46E-6

Fu2022 E
Trost2022 G

ABCA2

13122.p1

chr9:
139916358-139916358

G

A

exonic

synonymous SNV

NM_001606
NM_212533

c.C663T
c.C753T

p.P221P
p.P251P

-

Zhou2022 GE

ABCA2

MSSNG00393-003

chr9:
139904094-139904094

G

A

exonic

synonymous SNV

NM_001606
NM_212533

c.C6633T
c.C6723T

p.D2211D
p.D2241D

-

1.0E-4

Zhou2022 GE

ABCA2

3-0504-000

chr9:
139909351-139909351

G

A

intronic

De novo

-

3.502E-5

Trost2022 G

ABCA2

12225.p1

chr9:
139906388-139906388

C

T

exonic

De novo

nonsynonymous SNV

NM_001606
NM_212533

c.G5443A
c.G5533A

p.V1815M
p.V1845M

15.35

8.46E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ABCA2

2-1817-003

chr9:
139909647-139909647

G

A

intronic

De novo

-

Trost2022 G

ABCA2

1-0320-004

chr9:
139917082-139917082

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA2

AU056604

chr9:
139906266-139906266

C

T

intronic

De novo

-

9.788E-5

Trost2022 G

ABCA2

SP0025612

chr9:
139909299-139909299

C

T

intronic

De novo

-

3.0E-4

Trost2022 G

ABCA2

200675376@1082034681

chr9:
139906686-139906686

G

C

intronic

De novo

-

2.0E-4

Satterstrom2020 E
Trost2022 G

ABCA2

SSC07699

chr9:
139906930-139906930

C

T

intronic

De novo

-

2.546E-5

Fu2022 E
Trost2022 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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