Variant #0000168418 (NC_000011.9:g.121391400C>T, NM_003105.5:c.1246C>T (SORL1))
Individual ID |
00103337 |
Chromosome |
11 |
Allele |
Parent #1 |
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.121391400C>T |
DNA change (hg38) |
g.121520691C>T |
Published as |
- |
ISCN |
- |
DB-ID |
SORL1_000029 |
Variant remarks |
- |
Reference |
PubMed: Verheijen 2016, Journal: Verheijen 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/1255 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
No license selected |
Created by |
Henne Holstege |
Date created |
2017-04-11 15:22:08 +02:00 (CEST) |
Date last edited |
2017-04-14 16:20:42 +02:00 (CEST) |

Variant on transcripts
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