Variant #0000120007 (NC_000001.10:g.94586601T>C, NM_000350.2:c.1A>G (ABCA4))
Individual ID |
00074707 |
Chromosome |
1 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94586601T>C |
DNA change (hg38) |
g.94121045T>C |
Published as |
c.6089G>A p.Arg2030Gln rs61750641 (homozygous) |
ISCN |
- |
DB-ID |
ABCA4_000264 See all 41 reported entries |
Variant remarks |
- |
Reference |
PubMed: Eisenberger 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Stéphanie Cornelis |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Stéphanie Cornelis |
Date created |
2016-02-22 12:22:09 +01:00 (CET) |
Date last edited |
2016-07-19 11:38:48 +02:00 (CEST) |

Variant on transcripts
Screenings
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