Variant #0000959135 (NC_000001.10:g.94452244_94471761del, NM_000350.2:c.? (ABCA4))
| Individual ID |
00447364 |
| Chromosome |
1 |
| Allele |
Paternal (confirmed) |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
likely pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94452244_94471761del |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ABCA4_000000 See all 15 reported entries |
| Variant remarks |
ACMG PM2, PVS1 |
| Reference |
PubMed: Weisschuh 2024 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-01-26 10:23:59 +01:00 (CET) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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