Variant #0000020802 (NC_000020.10:g.(?_62076012)_(62103640_?)del, KCNQ2(NM_172107.2):c.(?_-177)_690+?del)
Individual ID |
00002647 |
Chromosome |
20 |
Allele |
Paternal (inferred) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_62076012)_(62103640_?)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
KCNQ2_000066 |
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
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