Variant #0000123155 (NC_000001.10:g.?, NM_000350.2:c.? (ABCA4))

Individual ID 00076927
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.?
DNA change (hg38) -
Published as c.3385C>T
ISCN -
DB-ID ABCA4_000000 See all 15 reported entries
Variant remarks -
Reference PubMed: Zernant 2011
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 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 2016-07-19 11:38:48 +02:00 (CEST)




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     
0000077103 DNA PE;SEQ-NG;SEQ - APEX ABCA4 3 Stéphanie Cornelis


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