Variant #0000776600 (NC_000001.10:g.94493901T>C, NC_000001.10(NM_000350.2):c.4539+1100A>G (ABCA4))

Individual ID 00367218
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.94493901T>C
DNA change (hg38) g.94028345T>C
Published as c.4539+1100A>G p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]b
ISCN -
DB-ID ABCA4_001288 See all 15 reported entries
Variant remarks -
Reference PubMed: Sangermano 2019
ClinVar ID -
dbSNP ID -
Origin Unknown
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 2021-05-03 14:25:36 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA4 NM_000350.2 +/. 30i c.4539+1100A>G r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=] p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000368446 DNA SEQ-NG-I - - ABCA4 2 Stéphanie Cornelis


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.