Variant #0000168516 (NC_000011.9:g.121348842G>A, NM_003105.5:c.418G>A (SORL1))
| Individual ID |
00103544 |
| Chromosome |
11 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Probably does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.121348842G>A |
| DNA change (hg38) |
g.121478133G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SORL1_000011 See all 2 reported entries |
| Variant remarks |
VPS10; BNR 1 |
| Reference |
Journal: Holstege 2017 |
| ClinVar ID |
- |
| dbSNP ID |
rs140888526 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
2/1268 controls |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00035 View details |
| Owner |
Henne Holstege |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2017-04-11 15:22:08 +02:00 (CEST) |
| Date last edited |
2025-05-28 04:18:53 +02:00 (CEST) |

Variant on transcripts
Screenings
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