Variant #0000437396 (NC_000017.10:g.68171617G>A, NM_000891.2:c.437G>A (KCNJ2))
Individual ID |
00206655 |
Chromosome |
17 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68171617G>A |
DNA change (hg38) |
g.70175476G>A |
Published as |
- |
ISCN |
- |
DB-ID |
KCNJ2_000027 See all 2 reported entries |
Variant remarks |
G-loop in cytoplasmic, pore region, selectivity filter residues GYG |
Reference |
PubMed: Donaldson 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/17 ATS probands |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Ikuko Takeda |
Database submission license |
No license selected |
Created by |
Ikuko Takeda |
Date created |
2013-05-22 12:31:07 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|