Variant #0000920099 (NC_000001.10:g.94586601T>C, NM_000350.2:c.1A>G (ABCA4))
| Individual ID |
00432916 |
| Chromosome |
1 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94586601T>C |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ABCA4_000264 See all 41 reported entries |
| Variant remarks |
- |
| Reference |
Bianco 2023, submitted |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
| Owner |
Lorenzo Bianco |
| Database submission license |
Creative Commons Attribution-NonCommercial 4.0 International |
| Created by |
Lorenzo Bianco |
| Date created |
2023-02-27 00:32:22 +01:00 (CET) |
| Date last edited |
2023-02-27 11:18:53 +01:00 (CET) |

Variant on transcripts
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