Variant #0000791647 (NC_000010.10:g.104356986dup, NM_016169.3:c.846dup (SUFU))
Individual ID |
00377551 |
Chromosome |
10 |
Allele |
Maternal (confirmed) |
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.104356986dup |
DNA change (hg38) |
g.102597229dup |
Published as |
104356981dup |
ISCN |
- |
DB-ID |
SUFU_000043 See all 9 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Valentina Serpieri |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Valentina Serpieri |
Date created |
2021-07-23 16:25:36 +02:00 (CEST) |
Date last edited |
2021-08-18 15:28:01 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|