Variant #0000020806 (NC_000020.10:g.62070962C>T, KCNQ2(NM_172107.2):c.916G>A)
Individual ID |
00002651 |
Chromosome |
20 |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.62070962C>T |
DNA change (hg38) |
g.63439609C>T |
Published as |
- |
ISCN |
- |
DB-ID |
KCNQ2_000036 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Gaetan Lesca |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
|
|