Variant #0000168562 (NC_000011.9:g.121348824C>G, NC_000011.9(NM_003105.5):c.403-3C>G (SORL1))
| Individual ID |
00103473 |
| Chromosome |
11 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.121348824C>G |
| DNA change (hg38) |
g.121478115C>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SORL1_000010 |
| Variant remarks |
- |
| Reference |
Journal: Holstege 2017 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
1/640 cases |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
2.0E-5 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 |
2025-02-20 14:27:12 +01:00 (CET) |

Variant on transcripts
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