Variant #0000058975 (NC_000001.10:g.94476467T>A, NM_000350.2:c.5603A>T (ABCA4))

Individual ID 00033137
Chromosome 1
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.94476467T>A
DNA change (hg38) g.94010911T>A
Published as -
ISCN -
DB-ID ABCA4_000007 See all 1896 reported entries
Variant remarks predicted benign
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04246 View details
Owner Kornelia Neveling
Database submission license No license selected
Created by Kornelia Neveling
Date created 2012-02-04 14:23:49 +01:00 (CET)
Date last edited 2016-07-19 11:38:48 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA4 NM_000350.2 -/. 40 c.5603A>T r.(?) p.(Asn1868Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033205 DNA SEQ;SEQ-NG-S - - ABCA4 2 Kornelia Neveling


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