Variant #0000959135 (NC_000001.10:g.94452244_94471761del, NM_000350.2:c.? (ABCA4))

Individual ID 00447364
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.94452244_94471761del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ABCA4_000000 See all 15 reported entries
Variant remarks ACMG PM2, PVS1
Reference PubMed: Weisschuh 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-01-26 10:23:59 +01:00 (CET)
Date last edited N/A
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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     
0000448941 DNA SEQ-NG - WGS - 2 Johan den Dunnen


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