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 International |
| 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) |

Variant on transcripts
Screenings
|