Variant Results

or

Results for "ABCA12"

Variant Events: 33

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

ABCA12

mAGRE1617

chr2:
215840541-215840543

AAG

A

exonic

Paternal

frameshift deletion

NM_015657
NM_173076

c.4393_4394del
c.5347_5348del

p.L1465fs
p.L1783fs

-

Cirnigliaro2023 G

ABCA12

AU3190305

chr2:
215923749-215923749

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA12

2-0273-003

chr2:
215949142-215949142

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA12

SP0038469

chr2:
216002928-216002928

C

T

exonic

De novo

nonsynonymous SNV

NM_173076

c.G4A

p.A2T

10.45

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA12

3-0215-000

chr2:
215907516-215907516

A

G

intronic

De novo

-

Trost2022 G

ABCA12

SP0112890

chr2:
215915455-215915455

A

G

intronic

De novo

-

Trost2022 G

ABCA12

SP0048906

chr2:
215929029-215929034

AACCTC

A

intronic

De novo

-

Fu2022 E

ABCA12

SP0033911

chr2:
215846907-215846907

A

C

intronic

De novo

-

Trost2022 G

ABCA12

AU2427302

chr2:
215853533-215853533

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA12

SP0050245

chr2:
215876403-215876403

C

T

intronic

De novo

-

Fu2022 E

ABCA12

2-1773-003

chr2:
215895993-215895993

G

T

intronic

De novo

-

Trost2022 G

ABCA12

AU3057301

chr2:
216109691-216109691

G

C

intergenic

De novo

-

Yuen2017 G

ABCA12

A32

chr2:
216084429-216084429

C

T

intergenic

De novo

-

Wu2018 G

ABCA12

04C33621A

chr2:
215846997-215846997

C

G

exonic

De novo

nonsynonymous SNV

NM_015657
NM_173076

c.G3539C
c.G4493C

p.R1180T
p.R1498T

18.69

-

Neale2012 E

ABCA12

1-0674-003

chr2:
215999176-215999176

T

C

intronic

De novo

-

Trost2022 G

ABCA12

1-0674-003

chr2:
215999193-215999193

G

A

intronic

De novo

-

Trost2022 G

ABCA12

MT_24.3

chr2:
215947667-215947667

T

C

intronic

De novo

-

Trost2022 G

ABCA12

7-0252-003

chr2:
215973501-215973502

AG

A

intronic

De novo

-

Trost2022 G

ABCA12

MSSNG00239-003

chr2:
215930103-215930105

AAG

A

intronic

De novo

-

Trost2022 G

ABCA12

MSSNG00335-003

chr2:
215868969-215868969

C

T

exonic

De novo

nonsynonymous SNV

NM_015657
NM_173076

c.G1693A
c.G2647A

p.D565N
p.D883N

24.4

8.428E-6

Trost2022 G
Zhou2022 GE

ABCA12

3-0346-000

chr2:
215939334-215939334

T

C

intronic

De novo

-

Trost2022 G

ABCA12

2-0171-003

chr2:
216036426-216036426

C

T

intergenic

De novo

-

Yuen2017 G

ABCA12

2-0013-003

chr2:
216172688-216172688

G

GATTACACCC

intergenic

De novo

-

Yuen2017 G

ABCA12

AU133A

chr2:
215852457-215852457

C

T

exonic

De novo

nonsynonymous SNV

NM_015657
NM_173076

c.G2936A
c.G3890A

p.R979Q
p.R1297Q

12.51

8.32E-6

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

ABCA12

1-0345-004

chr2:
215940012-215940012

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA12

2-1178-003

chr2:
215831077-215831077

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ABCA12

1-0558-003

chr2:
216139893-216139893

C

A

intergenic

De novo

-

Yuen2017 G

ABCA12

2-1222-003

chr2:
216025259-216025259

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ABCA12

G01-GEA-132-HI

chr2:
215809820-215809820

C

T

exonic

De novo

synonymous SNV

NM_015657
NM_173076

c.G6294A
c.G7248A

p.P2098P
p.P2416P

-

8.736E-6

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ABCA12

2-1454-003

chr2:
215944664-215944664

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCA12

14153.p1

chr2:
216105329-216105329

C

G

intergenic

De novo

-

Turner2016 G

ABCA12

iHART1617

chr2:
215840541-215840543

AAG

A

exonic

Paternal

frameshift deletion

NM_015657
NM_173076

c.4393_4394del
c.5347_5348del

p.L1465fs
p.L1783fs

-

Ruzzo2019 G

ABCA12

AU3839302

chr2:
215839133-215839133

A

G

intronic

De novo

-

Trost2022 G
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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