Variant #0000129968 (NC_000001.10:g.94493000C>T, NC_000001.10(NM_000350.2):c.4539+2001G>A (ABCA4))
| Individual ID |
00080789 |
| Chromosome |
1 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94493000C>T |
| DNA change (hg38) |
g.94027444C>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ABCA4_000015 See all 97 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Lonneke Haer-Wigman |
| Database submission license |
No license selected |
| Created by |
Lonneke Haer-Wigman |
| Date created |
2016-09-13 16:26:29 +02:00 (CEST) |
| Date last edited |
2022-09-19 11:44:30 +02:00 (CEST) |

Variant on transcripts
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