Variant #0000952341 (NC_000001.10:g.231488695G>A, NM_032018.5:c.1058G>A (SPRTN))
| Individual ID |
00443879 |
| Chromosome |
1 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.231488695G>A |
| DNA change (hg38) |
g.231352949G>A |
| Published as |
NM_032018:c.1058G>A |
| ISCN |
- |
| DB-ID |
SPRTN_000005 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Chatron 2020 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0 View details |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-12-05 14:09:46 +01:00 (CET) |
| Date last edited |
2023-12-05 14:13:20 +01:00 (CET) |

Variant on transcripts
Screenings
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