Variant #0000763658 (NC_000011.9:g.128709976C>A, NM_000220.4:c.220G>T (KCNJ1))
| Individual ID |
00361979 |
| Chromosome |
11 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.128709976C>A |
| DNA change (hg38) |
g.128840081C>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
KCNJ1_000034 |
| Variant remarks |
- |
| Reference |
PubMed: Brochard 2009 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-04-13 09:47:21 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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