Variant #0000124971 (NC_000001.10:g.94495009dup, NM_000350.2:c.4537dup (ABCA4))

Individual ID 00078064
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.94495009dup
DNA change (hg38) g.94029453dup
Published as c.4537_4538insC
ISCN -
DB-ID ABCA4_000087 See all 136 reported entries
Variant remarks -
Reference PubMed: Bauwens 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:00 +01:00 (CET)
Date last edited 2020-06-04 17:19:59 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA4 NM_000350.2 +?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078240 DNA SEQ-NG-I;PCR;SEQ - - ABCA4 2 Stéphanie Cornelis


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