Variant #0000123439 (NC_000001.10:g.94586600A>G, NM_000350.2:c.2T>C (ABCA4))

Individual ID 00077169
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.94586600A>G
DNA change (hg38) g.94121044A>G
Published as M1T
ISCN -
DB-ID ABCA4_000263 See all 5 reported entries
Variant remarks -
Reference PubMed: Maia-Lopes 2008
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 2016-12-05 12:24:28 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA4 NM_000350.2 +?/. 1 c.2T>C r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000077345 DNA PE;SEQ - APEX ABCA4 1 Stéphanie Cornelis


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