Variant #0000990005 (NC_000011.9:g.128709369C>T, NM_000220.4:c.827G>A (KCNJ1))
Individual ID |
00453419 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.128709369C>T |
DNA change (hg38) |
g.128839474C>T |
Published as |
- |
ISCN |
- |
DB-ID |
KCNJ1_000039 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
ClinVar-3378410 |
dbSNP ID |
- |
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 10:16:11 +02:00 (CEST) |
Date last edited |
2024-12-03 22:13:03 +01:00 (CET) |

Variant on transcripts
Screenings
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