Variant Results

or

or

Results for "ABCA4"

Variant Events: 10

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	-	6.593E-5	Fu2022 E
ABCA4	SP0130642	chr1: 94543341-94543341	G	A	exonic		De novo	nonsynonymous SNV	NM_000350	c.C1459T	p.R487W	11.64	1.647E-5	Fu2022 E
ABCA4	1-0563-004	chr1: 94512821-94512821	G	A	intronic		De novo					-	-	Yuen2017 G
ABCA4	AU056005	chr1: 94502279-94502279	T	G	intronic		De novo					-	-	Yuen2017 G
ABCA4	AU3368302	chr1: 94587905-94587905	C	T	intergenic		De novo					-	-	Yuen2017 G
ABCA4	AU3912303	chr1: 94482864-94482864	C	T	intronic		De novo					-	-	Yuen2017 G
ABCA4	Cukier2014:37425	chr1: 94512565-94512565	C	T	exonic		Unknown	nonsynonymous SNV	NM_000350	c.G2828A	p.R943Q	11.01	0.0307	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
ABCA4	1000482995765539-C	chr1: 94544961-94544961	C	T	exonic		De novo	nonsynonymous SNV	NM_000350	c.G1156A	p.A386T	15.1	1.647E-5	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
	More