Variant #0000923244 (NC_000001.10:g.78392445C>A, NM_144573.3:c.732C>A (NEXN))
| Chromosome |
1 |
| Allele |
Unknown |
| 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.78392445C>A |
| DNA change (hg38) |
- |
| Published as |
NEXN(NM_144573.3):c.732C>A (p.P244=), NEXN(NM_144573.4):c.732C>A (p.P244=, p.(Pro244=)) |
| ISCN |
- |
| DB-ID |
NEXN_000023 See all 6 reported entries |
| Variant remarks |
VKGL data sharing initiative Nederland |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
CLASSIFICATION record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.0006 View details |
| Owner |
VKGL-NL_Utrecht |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Utrecht |
| Date created |
2023-04-16 21:50:28 +02:00 (CEST) |
| Date last edited |
2025-05-05 21:14:00 +02:00 (CEST) |

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