Variant #0001046922 (NC_000017.10:g.78081447G>A, NM_000152.3:c.784G>A (GAA))
| Chromosome |
17 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.78081447G>A |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
GAA_000100 See all 13 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs201896815 |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
| Owner |
MobiDetails |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
MobiDetails |
| Date created |
2025-07-13 11:26:01 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
|