Variant #0000667122 (NC_000023.10:g.15590348G>C, NM_021804.2:c.1640C>G (ACE2))
| Individual ID |
00302614 |
| Chromosome |
X |
| Allele |
Unknown |
| 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.15590348G>C |
| DNA change (hg38) |
g.15572225G>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ACE2_000029 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00024 View details |
| Owner |
Alessandra Renieri |
| Database submission license |
No license selected |
| Created by |
Alessandra Renieri |
| Date created |
2020-05-26 16:31:43 +02:00 (CEST) |
| Date last edited |
2020-07-17 19:17:54 +02:00 (CEST) |

Variant on transcripts
Screenings
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