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
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|