Variant #0000815447 (NC_000001.10:g.94496547C>T, NC_000001.10(NM_000350.2):c.4253+5G>A (ABCA4))
| Individual ID |
00386171 |
| Chromosome |
1 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94496547C>T |
| DNA change (hg38) |
g.94030991C>T |
| Published as |
ABCA4:NM_000350.2 c.4253+5G>A, p.? |
| ISCN |
- |
| DB-ID |
ABCA4_000560 See all 41 reported entries |
| Variant remarks |
heterozygous, individual solved, variant causal |
| Reference |
PubMed: Rodriguez-Munoz 2020 |
| 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 |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-10-20 11:58:39 +02:00 (CEST) |
| Date last edited |
2021-10-20 12:01:50 +02:00 (CEST) |

Variant on transcripts
Screenings
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