Variant #0000917192 (NC_000014.8:g.77786877G>C, NM_013382.5:c.148C>G (POMT2))
| Individual ID |
00430482 |
| Chromosome |
14 |
| Allele |
Maternal (confirmed) |
| 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.77786877G>C |
| DNA change (hg38) |
g.77320534G>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
POMT2_000092 See all 3 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Cavdarli 2023 |
| ClinVar ID |
- |
| dbSNP ID |
rs550420394 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00012 View details |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-01-20 11:39:52 +01:00 (CET) |
| Date last edited |
2023-10-21 15:09:57 +02:00 (CEST) |

Variant on transcripts
Screenings
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