Variant Results

or

Results for "ABCA13"

Variant Events: 96

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

ABCA13

5-0128-003

chr7:
48638061-48638061

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

AU3787302

chr7:
48627740-48627740

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

AU4033303

chr7:
48818068-48818068

G

C

intergenic

De novo

-

Yuen2017 G

ABCA13

1-0564-003

chr7:
48685410-48685410

A

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

AU3648301

chr7:
48652870-48652870

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

12764.p1

chr7:
48596343-48596343

A

AT

intronic

De novo

-

Wilfert2021 G

ABCA13

2-1369-003

chr7:
48367631-48367631

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ABCA13

7-0100-004

chr7:
48333250-48333250

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

mAGRE2972

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Cirnigliaro2023 G

ABCA13

MSSNG00045-003

chr7:
48217530-48217530

C

T

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE2971

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Cirnigliaro2023 G

ABCA13

mAGRE2970

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Cirnigliaro2023 G

ABCA13

mAGRE2061

chr7:
48232555-48232555

G

T

splicing

Maternal

splicing

15.59

-

Cirnigliaro2023 G

ABCA13

SP0004601

chr7:
48427381-48427381

T

TA

intronic

De novo

-

Fu2022 E

ABCA13

mAGRE2057

chr7:
48232555-48232555

G

T

splicing

Maternal

splicing

15.59

-

Cirnigliaro2023 G

ABCA13

3-0428-000

chr7:
48426308-48426308

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ABCA13

SP0046512

chr7:
48314636-48314636

C

T

exonic

De novo

synonymous SNV

NM_152701

c.C5373T

p.F1791F

-

4.231E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA13

14215.p1

chr7:
48407362-48407362

C

T

intronic

De novo

-

7.927E-5

Satterstrom2020 E

ABCA13

SP0095864

chr7:
48666457-48666457

A

T

intronic

De novo

-

Fu2022 E
Trost2022 G

ABCA13

AU038703

chr7:
48841089-48841089

C

T

intergenic

De novo

-

Yuen2017 G

ABCA13

14-547

chr7:
48350603-48350604

AG

A

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE5878

chr7:
48319518-48319518

G

A

splicing

Paternal

splicing

14.89

1.012E-5

Cirnigliaro2023 G

ABCA13

1-1047-003

chr7:
48355298-48355298

A

C

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE5877

chr7:
48319518-48319518

G

A

splicing

Paternal

splicing

14.89

1.012E-5

Cirnigliaro2023 G

ABCA13

7-0257-003

chr7:
48332014-48332014

C

G

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE2998

chr7:
48314465-48314466

GT

G

exonic

Maternal

frameshift deletion

NM_152701

c.5203delT

p.F1735fs

-

Cirnigliaro2023 G

ABCA13

MSSNG00368-003

chr7:
48345777-48345777

T

G

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE4440

chr7:
48313276-48313276

C

A

exonic

Maternal

stopgain

NM_152701

c.C4013A

p.S1338X

40.0

-

Cirnigliaro2023 G

ABCA13

MSSNG00257-004

chr7:
48292733-48292733

T

C

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE4439

chr7:
48313276-48313276

C

A

exonic

Maternal

stopgain

NM_152701

c.C4013A

p.S1338X

40.0

-

Cirnigliaro2023 G

ABCA13

SP0151644

chr7:
48311901-48311901

G

T

exonic

De novo

nonsynonymous SNV

NM_152701

c.G2638T

p.D880Y

2.802

8.293E-6

Trost2022 G

ABCA13

mAGRE2211

chr7:
48273746-48273746

G

T

exonic

Maternal

stopgain

NM_152701

c.G895T

p.E299X

17.38

-

Cirnigliaro2023 G

ABCA13

SSC07524

chr7:
48443438-48443438

G

A

exonic

De novo

nonsynonymous SNV

NM_152701

c.G12032A

p.R4011Q

29.1

6.059E-5

Fu2022 E
Lim2017 E
Trost2022 G

ABCA13

AU024104

chr7:
48220190-48220190

T

A

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE4422

chr7:
48259087-48259087

C

T

exonic

Maternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Cirnigliaro2023 G

ABCA13

MSSNG00001-004

chr7:
48291918-48291918

C

T

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE2973

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Cirnigliaro2023 G

ABCA13

2-1277-003

chr7:
48423677-48423677

T

C

intronic

De novo

-

Trost2022 G

ABCA13

1-0947-003

chr7:
48427056-48427056

T

C

intronic

De novo

-

Trost2022 G

ABCA13

MSSNG00109-003

chr7:
48410299-48410299

C

A

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE5224

chr7:
48619881-48619881

C

T

exonic

Paternal

stopgain

NM_152701

c.C14416T

p.Q4806X

54.0

-

Cirnigliaro2023 G

ABCA13

14046.p1

chr7:
48467501-48467501

G

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

ABCA13

3-0663-000

chr7:
48422726-48422726

A

G

intronic

De novo

-

Trost2022 G

ABCA13

AU4129303

chr7:
48407506-48407506

G

A

splicing

Maternal

splicing

23.4

-

Cirnigliaro2023 G

ABCA13

MT_31.3

chr7:
48385294-48385294

T

C

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE5496

chr7:
48390238-48390238

A

G

splicing

Maternal

splicing

9.908

8.535E-6

Cirnigliaro2023 G

ABCA13

SSC10810

chr7:
48407362-48407362

C

T

intronic

De novo

-

7.927E-5

Trost2022 G

ABCA13

mAGRE5495

chr7:
48390238-48390238

A

G

splicing

Maternal

splicing

9.908

8.535E-6

Cirnigliaro2023 G

ABCA13

REACH000086

chr7:
48360168-48360168

G

A

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE5527

chr7:
48327570-48327570

G

A

exonic

Maternal

stopgain

NM_152701

c.G8850A

p.W2950X

50.0

3.0E-4

Cirnigliaro2023 G

ABCA13

4-0009-003

chr7:
48377370-48377370

C

G

intronic

De novo

-

Trost2022 G

ABCA13

mAGRE4497

chr7:
48327570-48327570

G

A

exonic

Paternal

stopgain

NM_152701

c.G8850A

p.W2950X

50.0

3.0E-4

Cirnigliaro2023 G

ABCA13

AU4429301

chr7:
48699537-48699537

G

A

intergenic

De novo

-

Yuen2017 G

ABCA13

2-1481-003

chr7:
48653107-48653112

GCTGTG

TCCTTCT

intronic

De novo

-

Trost2022 G

ABCA13

1-0632-003

chr7:
48653107-48653112

GCTGTG

TCCTTCT

intronic

De novo

-

Trost2022 G

ABCA13

SP0047909

chr7:
48564048-48564048

T

C

intronic

De novo

-

Trost2022 G

ABCA13

10C117939

chr7:
48287839-48287839

C

T

exonic

De novo

nonsynonymous SNV

NM_152701

c.C1663T

p.R555C

12.64

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ABCA13

1-0458-004

chr7:
48691135-48691135

T

G

intergenic

De novo

-

Yuen2017 G

ABCA13

MSSNG00219-003

chr7:
48648950-48648950

C

T

intronic

De novo

-

Trost2022 G

ABCA13

NDAR_INVXP194LCA_wes1

chr7:
48318773-48318773

A

G

exonic

De novo

nonsynonymous SNV

NM_152701

c.A7982G

p.N2661S

8.579

1.216E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ABCA13

12228.p1

chr7:
48287915-48287915

A

G

exonic

De novo

nonsynonymous SNV

NM_152701

c.A1739G

p.E580G

12.15

4.156E-5

Ji2016 E

ABCA13

REACH000219

chr7:
48518959-48518959

C

T

intronic

De novo

-

Trost2022 G

ABCA13

08C77477

chr7:
48335416-48335416

C

T

exonic

De novo

synonymous SNV

NM_152701

c.C9075T

p.C3025C

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ABCA13

1-0644-003

chr7:
48523719-48523719

T

C

intronic

De novo

-

Trost2022 G

ABCA13

10C103964

chr7:
48390312-48390312

A

G

exonic

De novo

nonsynonymous SNV

NM_152701

c.A10277G

p.N3426S

18.03

4.969E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ABCA13

MSSNG00121-003

chr7:
48435329-48435329

A

AT

intronic

De novo

-

Trost2022 G

ABCA13

1-0323-004

chr7:
48342572-48342572

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

AU1355301

chr7:
48891541-48891541

G

T

intergenic

De novo

-

Yuen2017 G

ABCA13

7-0230-003

chr7:
48453666-48453666

A

G

intronic

De novo

-

Trost2022 G

ABCA13

SSC06116

chr7:
48467428-48467428

G

C

exonic

De novo

nonsynonymous SNV

NM_152701

c.G12525C

p.E4175D

10.97

-

Fu2022 E
Trost2022 G

ABCA13

14328.p1

chr7:
48820902-48820902

G

A

intergenic

De novo

-

Werling2018 G

ABCA13

11168.p1

chr7:
48312591-48312591

G

A

exonic

nonsynonymous SNV

NM_152701

c.G3328A

p.V1110I

6.734

3.0E-4

Zhou2022 GE

ABCA13

5-5123-004

chr7:
48673346-48673346

G

A

intronic

De novo

-

Trost2022 G

ABCA13

2-1238-003

chr7:
48683524-48683524

G

T

intronic

De novo

-

Trost2022 G

ABCA13

REACH000525

chr7:
48661589-48661589

C

T

intronic

De novo

-

Trost2022 G

ABCA13

5-5016-003

chr7:
48667282-48667282

G

C

intronic

De novo

-

Trost2022 G

ABCA13

AU2142301

chr7:
48550774-48550774

C

G

exonic

De novo

nonsynonymous SNV

NM_152701

c.C13619G

p.A4540G

22.2

-

Trost2022 G
Zhou2022 GE

ABCA13

SP0083840

chr7:
48315746-48315746

A

G

exonic

De novo

synonymous SNV

NM_152701

c.A6483G

p.L2161L

-

Trost2022 G
Zhou2022 GE

ABCA13

2-1438-003

chr7:
48626631-48626631

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ABCA13

Krgovic2022:025244

chr7:
48327673-48327673

C

CC

exonic

Unknown

frameshift insertion

NM_152701

c.8953dupC

p.Q2985fs

-

Krgovic2022 E

ABCA13

AU2787302

chr7:
48501848-48501848

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

1-0820-003

chr7:
48365909-48365909

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

Cukier2014:7936

chr7:
48273776-48273776

C

T

intronic

Unknown

-

4.97E-5

Cukier2014 E

ABCA13

2-1620-003

chr7:
48735907-48735907

T

C

intergenic

De novo

-

Yuen2017 G

ABCA13

2-0305-004

chr7:
48390223-48390223

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA13

iHART2973

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Ruzzo2019 G

ABCA13

13496.p1

chr7:
48443438-48443438

G

A

exonic

De novo

nonsynonymous SNV

NM_152701

c.G12032A

p.R4011Q

29.1

6.059E-5

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ABCA13

iHART2972

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Ruzzo2019 G

ABCA13

iHART2970

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Ruzzo2019 G

ABCA13

iHART2211

chr7:
48273746-48273746

G

T

exonic

Maternal

stopgain

NM_152701

c.G895T

p.E299X

17.38

-

Ruzzo2019 G

ABCA13

1-0324-003

chr7:
48733243-48733243

T

C

intergenic

De novo

-

Yuen2017 G

ABCA13

iHART2971

chr7:
48259087-48259087

C

T

exonic

Paternal

stopgain

NM_152701

c.C424T

p.R142X

12.75

7.457E-5

Ruzzo2019 G

ABCA13

iHART2998

chr7:
48314465-48314466

GT

G

exonic

Maternal

frameshift deletion

NM_152701

c.5203delT

p.F1735fs

-

Ruzzo2019 G

ABCA13

12653.p1

chr7:
48467428-48467428

G

C

exonic

De novo

nonsynonymous SNV

NM_152701

c.G12525C

p.E4175D

10.97

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ABCA13

14637.p1

chr7:
48804710-48804710

G

A

intergenic

De novo

-

Turner2016 G

ABCA13

AU4069302

chr7:
48760486-48760486

G

A

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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