Variant #0000786897 (NC_000020.10:g.62076073C>G, NM_172107.2:c.629G>C (KCNQ2))
| Individual ID |
00374352 |
| Chromosome |
20 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.62076073C>G |
| DNA change (hg38) |
g.63444720C>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
KCNQ2_000228 |
| Variant remarks |
- |
| Reference |
PubMed: Ganapathy 2019 |
| ClinVar ID |
ClinVar-RCV000454413.1 |
| 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 |
2021-05-24 20:06:48 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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