Variant #0000990004 (NC_000011.9:g.128709141dup, NM_000220.4:c.1058dup (KCNJ1))
| Individual ID |
00453419 |
| Chromosome |
11 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.128709141dup |
| DNA change (hg38) |
g.128839246dup |
| Published as |
- |
| ISCN |
- |
| DB-ID |
KCNJ1_000017 See all 3 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
ClinVar-586075 |
| dbSNP ID |
rs768286324 |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Marketa Wayhelova |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Marketa Wayhelova |
| Date created |
2024-08-25 10:14:12 +02:00 (CEST) |
| Date last edited |
2024-09-25 19:47:40 +02:00 (CEST) |

Variant on transcripts
Screenings
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