Variant Results

or

Results for "ABCA3"

Variant Events: 28

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

ABCA3

AU009903

chr16:
2336384-2336384

G

A

intronic

De novo

-

Trost2022 G

ABCA3

SSC06742

chr16:
2374571-2374571

G

A

intronic

De novo

-

1.689E-5

Trost2022 G

ABCA3

3-0284-000

chr16:
2336250-2336250

C

T

intronic

De novo

-

Trost2022 G

ABCA3

2-0110-003

chr16:
2332605-2332605

G

A

intronic

De novo

-

Yuen2016 G

ABCA3

7902-01-007

chr16:
2358548-2358548

G

A

exonic

De novo

synonymous SNV

NM_001089

c.C1188T

p.Y396Y

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ABCA3

1-1070-003

chr16:
2334332-2334332

C

T

exonic

De novo

synonymous SNV

NM_001089

c.G3810A

p.T1270T

-

4.132E-5

Trost2022 G
Zhou2022 GE

ABCA3

1-1050-003

chr16:
2331446-2331446

C

T

exonic

De novo

nonsynonymous SNV

NM_001089

c.G4100A

p.R1367H

17.79

1.653E-5

Trost2022 G
Zhou2022 GE

ABCA3

AU4394302

chr16:
2374447-2374447

G

C

exonic

De novo

nonsynonymous SNV

NM_001089

c.C405G

p.F135L

20.4

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ABCA3

MSSNG00023-003

chr16:
2383650-2383650

T

G

intronic

De novo

-

Trost2022 G

ABCA3

SP0067811

chr16:
2376138-2376138

C

T

exonic

synonymous SNV

NM_001089

c.G192A

p.E64E

-

Zhou2022 GE

ABCA3

SP0022204

chr16:
2334331-2334331

G

A

exonic

De novo

nonsynonymous SNV

NM_001089

c.C3811T

p.R1271W

18.52

1.653E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA3

SP0008417

chr16:
2369697-2369697

T

A

exonic

De novo

nonsynonymous SNV

NM_001089

c.A758T

p.D253V

16.88

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA3

SP0045593

chr16:
2334780-2334780

C

G

exonic

De novo

nonsynonymous SNV

NM_001089

c.G3703C

p.A1235P

19.44

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA3

mAGRE5631

chr16:
2369714-2369714

G

C

exonic

Paternal

stopgain

NM_001089

c.C741G

p.Y247X

41.0

-

Cirnigliaro2023 G

ABCA3

SP0020871

chr16:
2334881-2334881

A

T

exonic

De novo

nonsynonymous SNV

NM_001089

c.T3602A

p.F1201Y

11.91

2.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA3

mAGRE5630

chr16:
2369714-2369714

G

C

exonic

Paternal

stopgain

NM_001089

c.C741G

p.Y247X

41.0

-

Cirnigliaro2023 G

ABCA3

2-0110-003

chr16:
2335329-2335329

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ABCA3

P1119

chr16:
2334337-2334337

C

A

exonic

De novo

stopgain

NM_001089

c.G3805T

p.E1269X

47.0

-

Hashimoto2016 E

ABCA3

SP0133650

chr16:
2376435-2376435

G

A

exonic

De novo

synonymous SNV

NM_001089

c.C33T

p.L11L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA3

SP0033849

chr16:
2349435-2349435

G

A

exonic

De novo

synonymous SNV

NM_001089

c.C1710T

p.A570A

-

2.479E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA3

SP0084226

chr16:
2376305-2376305

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

ABCA3

SP0015244

chr16:
2335051-2335051

A

C

intronic

De novo

-

1.258E-5

Fu2022 E

ABCA3

PN400102

chr16:
2367764-2367764

T

A

exonic

Unknown

nonsynonymous SNV

NM_001089

c.A875T

p.E292V

25.0

0.0022

Leblond2019 E

ABCA3

AU4468301

chr16:
2385599-2385599

G

C

intronic

De novo

-

Yuen2017 G

ABCA3

11793.p1

chr16:
2347351-2347351

G

T

exonic

De novo

nonsynonymous SNV

NM_001089

c.C2242A

p.L748M

14.88

-

Ji2016 E
Krumm2015 E

ABCA3

13013.p1

chr16:
2374571-2374571

G

A

intronic

De novo

-

1.689E-5

Satterstrom2020 E

ABCA3

08C76149

chr16:
2328355-2328355

C

T

exonic

De novo

nonsynonymous SNV

NM_001089

c.G4652A

p.R1551H

20.4

-

Fu2022 E

ABCA3

13493.p1

chr16:
2349111-2349111

C

T

intronic

Inherited

-

Wilfert2021 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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