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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