Variant #0000188369 (NC_000020.10:g.62076612G>A, NM_172107.2:c.493C>T (KCNQ2))
| Individual ID |
00117056 |
| Chromosome |
20 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.62076612G>A |
| DNA change (hg38) |
g.63445259G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
KCNQ2_000069 |
| Variant remarks |
- |
| Reference |
PubMed: Bobbili 2018, Journal: Bobbili 2018 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
1/567 controls |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0 View details |
| Owner |
Dheeraj Bobbili |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2017-08-03 15:16:01 +02:00 (CEST) |
| Date last edited |
2022-10-12 13:05:54 +02:00 (CEST) |

Variant on transcripts
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