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
|