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Results for "ABCA4"

Variant Events: 7

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     Cukier2014:37425chr1:
94512565-94512565
CTexonicUnknownnonsynonymous SNVNM_000350c.G2828Ap.R943Q11.010.0307Cukier2014 E
ABCA4     DEASD_0182_001chr1:
94528261-94528261
GCexonicDe novostopgainNM_000350c.C1809Gp.Y603X38.0-Lim2017 E
ABCA4     10C107587chr1:
94502713-94502713
ATexonicDe novosynonymous SNVNM_000350c.T3801Ap.T1267T--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ABCA4     1-0563-004chr1:
94512821-94512821
GAintronicDe novo--Yuen2017 G
ABCA4     AU056005chr1:
94502279-94502279
TGintronicDe novo--Yuen2017 G
ABCA4     AU3368302chr1:
94587905-94587905
CTintergenicDe novo--Yuen2017 G
ABCA4     AU3912303chr1:
94482864-94482864
CTintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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