Variant Results

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Results for "ABCA4"

Variant Events: 20

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

ABCA4

SP0104298

chr1:
94476463-94476463

C

T

exonic

De novo

synonymous SNV

NM_000350

c.G5607A

p.P1869P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA4

MSSNG00033-005

chr1:
94500790-94500790

G

T

intronic

De novo

-

-

Trost2022 G

ABCA4

SP0130642

chr1:
94543341-94543341

G

A

exonic

De novo

nonsynonymous SNV

NM_000350

c.C1459T

p.R487W

11.64

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCA4

MSSNG00087-003

chr1:
94500058-94500058

C

T

intronic

De novo

-

-

Trost2022 G

ABCA4

MT_183.4

chr1:
94549788-94549788

T

C

intronic

De novo

-

-

Trost2022 G

ABCA4

3-0607-001

chr1:
94543495-94543495

T

C

intronic

De novo

-

-

Trost2022 G

ABCA4

1-0563-004

chr1:
94512821-94512821

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ABCA4

MSSNG00358-004

chr1:
94491740-94491740

C

T

intronic

De novo

-

-

Trost2022 G

ABCA4

1-1223-003

chr1:
94464045-94464045

C

T

intronic

De novo

-

-

Trost2022 G

ABCA4

AU056005

chr1:
94502279-94502279

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ABCA4

AU3368302

chr1:
94587905-94587905

C

T

intergenic

De novo

-

-

Yuen2017 G

ABCA4

AU3912303

chr1:
94482864-94482864

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ABCA4

5-5046-004

chr1:
94565281-94565281

C

T

intronic

De novo

-

-

Trost2022 G

ABCA4

REACH000377

chr1:
94559119-94559119

T

C

intronic

De novo

-

-

Trost2022 G

ABCA4

MSSNG00065-003

chr1:
94586683-94586683

T

C

UTR5

De novo

-

-

Trost2022 G

ABCA4

7-0357-004

chr1:
94583117-94583117

C

T

intronic

De novo

-

-

Trost2022 G

ABCA4

Cukier2014:37425

chr1:
94512565-94512565

C

T

exonic

Unknown

nonsynonymous SNV

NM_000350

c.G2828A

p.R943Q

11.01

Cukier2014 E

ABCA4

DEASD_0182_001

chr1:
94528261-94528261

G

C

exonic

De novo

stopgain

NM_000350

c.C1809G

p.Y603X

38.0

-

Lim2017 E

ABCA4

10C107587

chr1:
94502713-94502713

A

T

exonic

De novo

synonymous SNV

NM_000350

c.T3801A

p.T1267T

-

-

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

ABCA4

1000482995765539-C

chr1:
94544961-94544961

C

T

exonic

De novo

nonsynonymous SNV

NM_000350

c.G1156A

p.A386T

15.1

Fu2022 E

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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