Variant #0000972258 (NC_000017.10:g.68171610G>A, NM_000891.2:c.430G>A (KCNJ2))
| Individual ID |
00448693 |
| Chromosome |
17 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic (dominant) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68171610G>A |
| DNA change (hg38) |
g.70175469G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
KCNJ2_000023 See all 3 reported entries |
| Variant remarks |
ACMG: PS4_MOD, PM5, PP3_MOD, PS2_SUP, PS3_SUP, PM2_SUP, PP2 |
| Reference |
PMID: 11371347, 12163457, 12909315, 14522976, 22002906 |
| ClinVar ID |
VCV000067573.6 |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
? |
| Frequency |
- |
| Re-site |
LanerMGZ |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Andreas Laner |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Andreas Laner |
| Date created |
2024-04-12 11:32:23 +02:00 (CEST) |
| Date last edited |
2024-09-12 14:34:01 +02:00 (CEST) |

Variant on transcripts
Screenings
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