Variant #0000796817 (NC_000001.10:g.94528142C>T, NM_000350.2:c.? (ABCA4))

Individual ID 00381660
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.94528142C>T
DNA change (hg38) -
Published as c.1928G>A
ISCN -
DB-ID ABCA4_000000 See all 15 reported entries
Variant remarks -
Reference PubMed: Eisenberger-2013
ClinVar ID -
dbSNP ID rs114572202
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-09-03 05:21:17 +02:00 (CEST)
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 +?/. 13 c.? r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000382876 DNA SEQ-NG-I;SEQ-NG-R;SEQ blood - ABCA4 4 LOVD


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