Variant #0000437350 (NC_000017.10:g.68171298C>T, NM_000891.2:c.118C>T (KCNJ2))
Individual ID |
00206609 |
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.68171298C>T |
DNA change (hg38) |
g.70175157C>T |
Published as |
- |
ISCN |
- |
DB-ID |
KCNJ2_000002 |
Variant remarks |
cytoplamic, N-terminus |
Reference |
PubMed: Kuramoto 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
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
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