Variant #0000764626 (NC_000001.10:g.?, NM_000350.2:c.? (ABCA4))

Individual ID 00362695
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as IVS50-131ins/del
ISCN -
DB-ID NPHS2_000000 See all 244 reported entries
Variant remarks -
Reference PubMed: Downs 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Julia Lopez
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-04-22 15:23:44 +02:00 (CEST)
Date last edited N/A




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA4 NM_000350.2 -?/. - c.? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363923 DNA SEQ blood - ABCA4, BEST1, C1QTNF5, EFEMP1, ELOVL4, PRPH2, RS1, TIMP3 1 Julia Lopez


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